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LH receptor

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Target id: 254

Nomenclature: LH receptor

Family: Glycoprotein hormone receptors

Gene and Protein Information Click here for help
class A G protein-coupled receptor
Species TM AA Chromosomal Location Gene Symbol Gene Name Reference
Human 7 699 2p16.3 LHCGR luteinizing hormone/choriogonadotropin receptor 14
Mouse 7 700 17 58.35 cM Lhcgr luteinizing hormone/choriogonadotropin receptor 8
Rat 7 700 6q12 Lhcgr luteinizing hormone/choriogonadotropin receptor 13
Previous and Unofficial Names Click here for help
Choriogonadotropin receptor | LCGR | LGR2 | LHR | lutropin-choriogonadotropic hormone receptor | LH-R
Database Links Click here for help
Specialist databases
GPCRdb lshr_human (Hs), lshr_mouse (Mm), lshr_rat (Rn)
Other databases
Alphafold
CATH/Gene3D
ChEMBL Target
DrugBank Target
Ensembl Gene
Entrez Gene
Human Protein Atlas
KEGG Gene
OMIM
Orphanet
Pharos
RefSeq Nucleotide
RefSeq Protein
UniProtKB
Wikipedia
Natural/Endogenous Ligands Click here for help
hCG {Sp: Human}
LH {Sp: Human} , LH {Sp: Mouse} , LH {Sp: Rat}
Potency order of endogenous ligands
LH (CGA, LHB, P01215, P01229), hCG (CGA, CGB3, P01215, P01233)  [9,15]

Download all structure-activity data for this target as a CSV file go icon to follow link

Agonists
Key to terms and symbols Click column headers to sort
Ligand Sp. Action Value Parameter Reference
hCG {Sp: Human} Peptide Ligand is endogenous in the given species Hs Full agonist 9.9 – 11.8 pKd 9,15
pKd 9.9 – 11.8 [9,15]
LH {Sp: Human} Peptide Approved drug Primary target of this compound Ligand is endogenous in the given species Hs Full agonist 9.9 – 10.9 pIC50 9,15
pIC50 9.9 – 10.9 [9,15]
[125I]chorionic gonadotropin (human) Peptide Ligand is labelled Ligand is radioactive Hs Full agonist - -
[125I]LH Peptide Ligand is labelled Ligand is radioactive Hs Full agonist - -
Agonist Comments
Various thienopyrimidine derivatives are known LH receptor agonists binding with pIC50 values of between 7.7 and 5 [18].

There are considerable differences in affinity when comparing various species combinations of receptors and the natural ligands [6].
Antagonist Comments
Deglycosylated hCGs (human chorionic gonadotropins) are known LH receptor antagonists [3,12].
Primary Transduction Mechanisms Click here for help
Transducer Effector/Response
Gs family Adenylyl cyclase stimulation
References:  7,10
Secondary Transduction Mechanisms Click here for help
Transducer Effector/Response
Gq/G11 family Phospholipase C stimulation
Comments:  At high receptor and/or agonist concentrations, Gq/11 is stimulated.
References:  5,10
Tissue Distribution Click here for help
Ovary, fallopian tubes, endometrium, vaginal wall, vaginal connective tissue fibroblasts, macrophages, brain vessels, microglial cells.
Species:  Human
Technique:  Immunohistochemistry.
References:  2
Placental chorionic villous macrophages.
Species:  Human
Technique:  RT-PCR.
References:  22
Prostate.
Species:  Human
Technique:  RT-PCR.
References:  4
Skin.
Species:  Human
Technique:  Radioligand binding.
References:  16
Adrenal cortex.
Species:  Human
Technique:  in situ hybridisation.
References:  17
Ovary: theca cells, large follicles, corpora lutea, surface epithelium.
Oviduct: serosa and subepithelial cells, smooth muscle.
Uterus: stromal cells of the endometrium and uterine serosa, smooth muscle cells.
Species:  Mouse
Technique:  in situ hybridisation.
References:  28
Ovary > uterus > testes.
Species:  Mouse
Technique:  Radioligand binding.
References:  28
Ovary > uterus > testes.
Species:  Rat
Technique:  Radioligand binding.
References:  28
Tissue Distribution Comments
In many tissues mRNA expression, protein expression and even receptor activity has been found. It is however still under debate whether such functional expression has physiological relevance, since the human and mouse knockouts do not show deficiencies related to this extragonadal expression.
Expression Datasets Click here for help

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Log average relative transcript abundance in mouse tissues measured by qPCR from Regard, J.B., Sato, I.T., and Coughlin, S.R. (2008). Anatomical profiling of G protein-coupled receptor expression. Cell, 135(3): 561-71. [PMID:18984166] [Raw data: website]

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Functional Assays Click here for help
Measurement of testosterone levels in rat Leydig cells.
Species:  Rat
Tissue:  Leydig cells of the testes.
Response measured:  Stimulation of testosterone production.
References:  20
Measurement of testosterone levels in mouse interstitial tissue of the testes.
Species:  Mouse
Tissue:  Interstitial tissue of the testes.
Response measured:  Stimulation of testosterone production.
References:  24
Measurement of cAMP and testosterone levels in rat interstitial tissue of the testes.
Species:  Rat
Tissue:  Interstitial tissue of the testes.
Response measured:  Stimulation of cAMP and testosterone production.
References:  21
Measurement of cAMP levels in an L cell line transfected with the mouse LH receptor (LHR 11/6).
Species:  Mouse
Tissue:  L cell line, LHR 11/6.
Response measured:  Stimulation of cAMP production.
References:  8
Measurement of IP, IP2, and IP3 levels in an L cell line transfected with the mouse LH receptor (LHR 11/6).
Species:  Mouse
Tissue:  L cell line, LHR 11/6.
Response measured:  Stimulation of IP, IP2, and IP3 formation.
References:  8
Physiological Functions Click here for help
Steroidogenesis.
Species:  Rat
Tissue:  Ovary.
References:  26
Ovulation.
Species:  Mouse
Tissue:  Ovary.
References:  25
Steroidogenesis.
Species:  Rat
Tissue:  Testes.
References:  1
Physiological Consequences of Altering Gene Expression Click here for help
LH receptor knockout mice exhibit anovulation and failure of postnatal sex differentiation.
Species:  Mouse
Tissue: 
Technique:  Gene targeting in embryonic stem cells.
References:  11,27
Phenotypes, Alleles and Disease Models Click here for help Mouse data from MGI

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Allele Composition & genetic background Accession Phenotype Id Phenotype Reference
Lhcgrtm1Cvr Lhcgrtm1Cvr/Lhcgrtm1Cvr
either: 129X1/SvJ-Lhcgr or (involves: 129X1/SvJ * C57BL/6)
MGI:96783  MP:0000010 abnormal abdominal fat pad morphology PMID: 11145749 
Lhcgrtm1Hht Lhcgrtm1Hht/Lhcgrtm1Hht
involves: 129S7/SvEvBrd * C57BL/6J
MGI:96783  MP:0005189 abnormal anogenital distance PMID: 11145748  15514086 
Lhcgrtm1Cvr Lhcgrtm1Cvr/Lhcgrtm1Cvr
either: 129X1/SvJ-Lhcgr or (involves: 129X1/SvJ * C57BL/6)
MGI:96783  MP:0005189 abnormal anogenital distance PMID: 11145749 
Lhcgrtm1Hht Lhcgrtm1Hht/Lhcgrtm1Hht
involves: 129S7/SvEvBrd * C57BL/6J
MGI:96783  MP:0002660 abnormal caput epididymis morphology PMID: 15514086 
Lhcgrtm1Cvr Lhcgrtm1Cvr/Lhcgrtm1Cvr
either: 129X1/SvJ-Lhcgr or (involves: 129X1/SvJ * C57BL/6)
MGI:96783  MP:0002660 abnormal caput epididymis morphology PMID: 12604639 
Lhcgrtm1Cvr Lhcgrtm1Cvr/Lhcgrtm1Cvr
either: 129X1/SvJ-Lhcgr or (involves: 129X1/SvJ * C57BL/6)
MGI:96783  MP:0002662 abnormal cauda epididymis morphology PMID: 12604639 
Lhcgrtm1Hht Lhcgrtm1Hht/Lhcgrtm1Hht
involves: 129S7/SvEvBrd * C57BL/6J
MGI:96783  MP:0001378 abnormal ejaculation PMID: 15514086 
Lhcgrtm1Cvr Lhcgrtm1Cvr/Lhcgrtm1Cvr
either: 129X1/SvJ-Lhcgr or (involves: 129X1/SvJ * C57BL/6)
MGI:96783  MP:0004933 abnormal epididymis epithelium morphology PMID: 12604639 
Lhcgrtm1Cvr Lhcgrtm1Cvr/Lhcgrtm1Cvr
either: 129X1/SvJ-Lhcgr or (involves: 129X1/SvJ * C57BL/6)
MGI:96783  MP:0002631 abnormal epididymis morphology PMID: 12604639 
Lhcgrtm1Hht Lhcgrtm1Hht/Lhcgrtm1Hht
involves: 129S7/SvEvBrd * C57BL/6J
MGI:96783  MP:0001119 abnormal female reproductive system morphology PMID: 11145748 
Lhcgrtm1Cvr Lhcgrtm1Cvr/Lhcgrtm1Cvr
either: 129X1/SvJ-Lhcgr or (involves: 129X1/SvJ * C57BL/6)
MGI:96783  MP:0001119 abnormal female reproductive system morphology PMID: 11145749 
Lhcgrtm1Hht Lhcgrtm1Hht/Lhcgrtm1Hht
involves: 129S7/SvEvBrd * C57BL/6J
MGI:96783  MP:0001145 abnormal male reproductive system morphology PMID: 11145748 
Lhcgrtm1Hht Lhcgrtm1Hht/Lhcgrtm1Hht
involves: 129S7/SvEvBrd * C57BL/6J
MGI:96783  MP:0002783 abnormal ovarian secretion PMID: 11145748 
Lhcgrtm1Cvr Lhcgrtm1Cvr/Lhcgrtm1Cvr
either: 129X1/SvJ-Lhcgr or (involves: 129X1/SvJ * C57BL/6)
MGI:96783  MP:0001126 abnormal ovary morphology PMID: 11145749 
Lhcgrtm1Hht Lhcgrtm1Hht/Lhcgrtm1Hht
involves: 129S7/SvEvBrd * C57BL/6J
MGI:96783  MP:0001158 abnormal prostate gland morphology PMID: 15514086 
Lhcgrtm1Hht Lhcgrtm1Hht/Lhcgrtm1Hht
involves: 129S7/SvEvBrd * C57BL/6J
MGI:96783  MP:0001919 abnormal reproductive system physiology PMID: 11145748 
Lhcgrtm1Cvr Lhcgrtm1Cvr/Lhcgrtm1Cvr
either: 129X1/SvJ-Lhcgr or (involves: 129X1/SvJ * C57BL/6)
MGI:96783  MP:0002216 abnormal seminiferous tubule morphology PMID: 11145749 
Lhcgrtm1Hht Lhcgrtm1Hht/Lhcgrtm1Hht
involves: 129S7/SvEvBrd * C57BL/6J
MGI:96783  MP:0002566 abnormal sexual interaction PMID: 15514086 
Lhcgrtm1Hht Lhcgrtm1Hht/Lhcgrtm1Hht
involves: 129S7/SvEvBrd * C57BL/6J
MGI:96783  MP:0004543 abnormal sperm physiology PMID: 15514086 
Lhcgrtm1Hht Lhcgrtm1Hht/Lhcgrtm1Hht
involves: 129S7/SvEvBrd * C57BL/6J
MGI:96783  MP:0002782 abnormal testicular secretion PMID: 11145748 
Lhcgrtm1Hht Lhcgrtm1Hht/Lhcgrtm1Hht
involves: 129S7/SvEvBrd * C57BL/6J
MGI:96783  MP:0001120 abnormal uterus morphology PMID: 11145748 
Lhcgrtm1Cvr Lhcgrtm1Cvr/Lhcgrtm1Cvr
either: 129X1/SvJ-Lhcgr or (involves: 129X1/SvJ * C57BL/6)
MGI:96783  MP:0001120 abnormal uterus morphology PMID: 11145749 
Lhcgrtm1Cvr Lhcgrtm1Cvr/Lhcgrtm1Cvr
either: 129X1/SvJ-Lhcgr or (involves: 129X1/SvJ * C57BL/6)
MGI:96783  MP:0003531 abnormal vagina development PMID: 11145749 
Lhcgrtm1Cvr Lhcgrtm1Cvr/Lhcgrtm1Cvr
either: 129X1/SvJ-Lhcgr or (involves: 129X1/SvJ * C57BL/6)
MGI:96783  MP:0001142 abnormal vagina opening PMID: 11145749 
Lhcgrtm1Hht Lhcgrtm1Hht/Lhcgrtm1Hht
involves: 129S7/SvEvBrd * C57BL/6J
MGI:96783  MP:0002770 absent bulbourethral gland PMID: 15514086 
Lhcgrtm1Hht Lhcgrtm1Hht/Lhcgrtm1Hht
involves: 129S7/SvEvBrd * C57BL/6J
MGI:96783  MP:0001134 absent corpus luteum PMID: 11145748 
Lhcgrtm1Cvr Lhcgrtm1Cvr/Lhcgrtm1Cvr
either: 129X1/SvJ-Lhcgr or (involves: 129X1/SvJ * C57BL/6)
MGI:96783  MP:0001134 absent corpus luteum PMID: 11145749 
Lhcgrtm1Hht Lhcgrtm1Hht/Lhcgrtm1Hht
involves: 129S7/SvEvBrd * C57BL/6J
MGI:96783  MP:0009097 absent endometrial glands PMID: 11145748 
Lhcgrtm1Hht Lhcgrtm1Hht/Lhcgrtm1Hht
involves: 129S7/SvEvBrd * C57BL/6J
MGI:96783  MP:0009009 absent estrous cycle PMID: 11145748 
Lhcgrtm1Cvr Lhcgrtm1Cvr/Lhcgrtm1Cvr
either: 129X1/SvJ-Lhcgr or (involves: 129X1/SvJ * C57BL/6)
MGI:96783  MP:0009009 absent estrous cycle PMID: 11145749 
Lhcgrtm1Hht Lhcgrtm1Hht/Lhcgrtm1Hht
involves: 129S7/SvEvBrd * C57BL/6J
MGI:96783  MP:0009021 absent estrus PMID: 11145748 
Lhcgrtm1Hht Lhcgrtm1Hht/Lhcgrtm1Hht
involves: 129S7/SvEvBrd * C57BL/6J
MGI:96783  MP:0002785 absent Leydig cells PMID: 11145748 
Lhcgrtm1Cvr Lhcgrtm1Cvr/Lhcgrtm1Cvr
either: 129X1/SvJ-Lhcgr or (involves: 129X1/SvJ * C57BL/6)
MGI:96783  MP:0001132 absent mature ovarian follicles PMID: 11145749 
Lhcgrtm1Hht Lhcgrtm1Hht/Lhcgrtm1Hht
involves: 129S7/SvEvBrd * C57BL/6J
MGI:96783  MP:0001155 arrest of spermatogenesis PMID: 11145748  15514086 
Lhcgrtm1Cvr Lhcgrtm1Cvr/Lhcgrtm1Cvr
either: 129X1/SvJ-Lhcgr or (involves: 129X1/SvJ * C57BL/6)
MGI:96783  MP:0001155 arrest of spermatogenesis PMID: 11145749 
Lhcgrtm1Hht Lhcgrtm1Hht/Lhcgrtm1Hht
involves: 129S7/SvEvBrd * C57BL/6J
MGI:96783  MP:0002286 cryptorchism PMID: 11145748  15514086 
Lhcgrtm1Cvr Lhcgrtm1Cvr/Lhcgrtm1Cvr
either: 129X1/SvJ-Lhcgr or (involves: 129X1/SvJ * C57BL/6)
MGI:96783  MP:0002286 cryptorchism PMID: 11145749 
Lhcgrtm1Hht Lhcgrtm1Hht/Lhcgrtm1Hht
involves: 129S7/SvEvBrd * C57BL/6J
MGI:96783  MP:0001262 decreased body weight PMID: 11145748 
Lhcgrtm1Cvr Lhcgrtm1Cvr/Lhcgrtm1Cvr
either: 129X1/SvJ-Lhcgr or (involves: 129X1/SvJ * C57BL/6)
MGI:96783  MP:0005181 decreased circulating estradiol level PMID: 11145749 
Lhcgrtm1Cvr Lhcgrtm1Cvr/Lhcgrtm1Cvr
either: 129X1/SvJ-Lhcgr or (involves: 129X1/SvJ * C57BL/6)
MGI:96783  MP:0005185 decreased circulating progesterone level PMID: 11145749 
Lhcgrtm1Hht Lhcgrtm1Hht/Lhcgrtm1Hht
involves: 129S7/SvEvBrd * C57BL/6J
MGI:96783  MP:0002780 decreased circulating testosterone level PMID: 11145748  15514086 
Lhcgrtm1Cvr Lhcgrtm1Cvr/Lhcgrtm1Cvr
either: 129X1/SvJ-Lhcgr or (involves: 129X1/SvJ * C57BL/6)
MGI:96783  MP:0002780 decreased circulating testosterone level PMID: 11145749 
Lhcgr+|Lhcgrtm1Cvr Lhcgrtm1Cvr/Lhcgr+
either: 129X1/SvJ-Lhcgr or (involves: 129X1/SvJ * C57BL/6)
MGI:96783  MP:0002780 decreased circulating testosterone level PMID: 11145749 
Lhcgrtm1Cvr Lhcgrtm1Cvr/Lhcgrtm1Cvr
either: 129X1/SvJ-Lhcgr or (involves: 129X1/SvJ * C57BL/6)
MGI:96783  MP:0009096 decreased endometrial gland number PMID: 11145749 
Lhcgrtm1Cvr Lhcgrtm1Cvr/Lhcgrtm1Cvr
either: 129X1/SvJ-Lhcgr or (involves: 129X1/SvJ * C57BL/6)
MGI:96783  MP:0004929 decreased epididymis weight PMID: 11145749 
Lhcgrtm1Cvr Lhcgrtm1Cvr/Lhcgrtm1Cvr
either: 129X1/SvJ-Lhcgr or (involves: 129X1/SvJ * C57BL/6)
MGI:96783  MP:0004856 decreased ovary weight PMID: 11145749 
Lhcgrtm1Cvr Lhcgrtm1Cvr/Lhcgrtm1Cvr
either: 129X1/SvJ-Lhcgr or (involves: 129X1/SvJ * C57BL/6)
MGI:96783  MP:0004910 decreased seminal vesicle weight PMID: 11145749 
Lhcgrtm1Hht Lhcgrtm1Hht/Lhcgrtm1Hht
involves: 129S7/SvEvBrd * C57BL/6J
MGI:96783  MP:0004852 decreased testis weight PMID: 11145748  15514086 
Lhcgrtm1Cvr Lhcgrtm1Cvr/Lhcgrtm1Cvr
either: 129X1/SvJ-Lhcgr or (involves: 129X1/SvJ * C57BL/6)
MGI:96783  MP:0004852 decreased testis weight PMID: 11145749 
Lhcgrtm1Hht Lhcgrtm1Hht/Lhcgrtm1Hht
involves: 129S7/SvEvBrd * C57BL/6J
MGI:96783  MP:0002636 delayed vaginal opening PMID: 11145748 
Lhcgrtm1Hht Lhcgrtm1Hht/Lhcgrtm1Hht
involves: 129S7/SvEvBrd * C57BL/6J
MGI:96783  MP:0000642 enlarged adrenal glands PMID: 15514086 
Lhcgrtm1Hht Lhcgrtm1Hht/Lhcgrtm1Hht
involves: 129S7/SvEvBrd * C57BL/6J
MGI:96783  MP:0000691 enlarged spleen PMID: 15514086 
Lhcgrtm1Hht Lhcgrtm1Hht/Lhcgrtm1Hht
involves: 129S7/SvEvBrd * C57BL/6J
MGI:96783  MP:0003596 epididymal inflammation PMID: 15514086 
Lhcgrtm1Hht Lhcgrtm1Hht/Lhcgrtm1Hht
involves: 129S7/SvEvBrd * C57BL/6J
MGI:96783  MP:0004932 epididymis hypoplasia PMID: 11145748 
Lhcgrtm1Cvr Lhcgrtm1Cvr/Lhcgrtm1Cvr
either: 129X1/SvJ-Lhcgr or (involves: 129X1/SvJ * C57BL/6)
MGI:96783  MP:0004932 epididymis hypoplasia PMID: 11145749 
Lhcgrtm1Hht Lhcgrtm1Hht/Lhcgrtm1Hht
involves: 129S7/SvEvBrd * C57BL/6J
MGI:96783  MP:0009201 external male genitalia atrophy PMID: 15514086 
Lhcgrtm1Hht Lhcgrtm1Hht/Lhcgrtm1Hht
involves: 129S7/SvEvBrd * C57BL/6J
MGI:96783  MP:0001926 female infertility PMID: 11145748 
Lhcgrtm1Cvr Lhcgrtm1Cvr/Lhcgrtm1Cvr
either: 129X1/SvJ-Lhcgr or (involves: 129X1/SvJ * C57BL/6)
MGI:96783  MP:0001926 female infertility PMID: 11145749 
Lhcgrtm1Hht Lhcgrtm1Hht/Lhcgrtm1Hht
involves: 129S7/SvEvBrd * C57BL/6J
MGI:96783  MP:0001129 impaired ovarian folliculogenesis PMID: 11145748 
Lhcgrtm1Cvr Lhcgrtm1Cvr/Lhcgrtm1Cvr
either: 129X1/SvJ-Lhcgr or (involves: 129X1/SvJ * C57BL/6)
MGI:96783  MP:0001129 impaired ovarian folliculogenesis PMID: 11145749 
Lhcgrtm1Cvr Lhcgrtm1Cvr/Lhcgrtm1Cvr
either: 129X1/SvJ-Lhcgr or (involves: 129X1/SvJ * C57BL/6)
MGI:96783  MP:0001260 increased body weight PMID: 11145749 
Lhcgrtm1Cvr Lhcgrtm1Cvr/Lhcgrtm1Cvr
either: 129X1/SvJ-Lhcgr or (involves: 129X1/SvJ * C57BL/6)
MGI:96783  MP:0005182 increased circulating estradiol level PMID: 11145749 
Lhcgrtm1Hht Lhcgrtm1Hht/Lhcgrtm1Hht
involves: 129S7/SvEvBrd * C57BL/6J
MGI:96783  MP:0001750 increased circulating follicle stimulating hormone level PMID: 11145748  15514086 
Lhcgrtm1Cvr Lhcgrtm1Cvr/Lhcgrtm1Cvr
either: 129X1/SvJ-Lhcgr or (involves: 129X1/SvJ * C57BL/6)
MGI:96783  MP:0001750 increased circulating follicle stimulating hormone level PMID: 11145749 
Lhcgr+|Lhcgrtm1Cvr Lhcgrtm1Cvr/Lhcgr+
either: 129X1/SvJ-Lhcgr or (involves: 129X1/SvJ * C57BL/6)
MGI:96783  MP:0001750 increased circulating follicle stimulating hormone level PMID: 11145749 
Lhcgrtm1Hht Lhcgrtm1Hht/Lhcgrtm1Hht
involves: 129S7/SvEvBrd * C57BL/6J
MGI:96783  MP:0001751 increased circulating luteinizing hormone level PMID: 11145748  15514086 
Lhcgrtm1Cvr Lhcgrtm1Cvr/Lhcgrtm1Cvr
either: 129X1/SvJ-Lhcgr or (involves: 129X1/SvJ * C57BL/6)
MGI:96783  MP:0001751 increased circulating luteinizing hormone level PMID: 11145749 
Lhcgrtm1Hht Lhcgrtm1Hht/Lhcgrtm1Hht
involves: 129S7/SvEvBrd * C57BL/6J
MGI:96783  MP:0003917 increased kidney weight PMID: 15514086 
Lhcgrtm1Hht Lhcgrtm1Hht/Lhcgrtm1Hht
involves: 129S7/SvEvBrd * C57BL/6J
MGI:96783  MP:0005536 Leydig cell hypoplasia PMID: 11145748  15514086 
Lhcgrtm1Cvr Lhcgrtm1Cvr/Lhcgrtm1Cvr
either: 129X1/SvJ-Lhcgr or (involves: 129X1/SvJ * C57BL/6)
MGI:96783  MP:0005536 Leydig cell hypoplasia PMID: 11145749 
Lhcgrtm1Cvr Lhcgrtm1Cvr/Lhcgrtm1Cvr
either: 129X1/SvJ-Lhcgr or (involves: 129X1/SvJ * C57BL/6)
MGI:96783  MP:0008280 male germ cell apoptosis PMID: 12604639 
Lhcgrtm1Hht Lhcgrtm1Hht/Lhcgrtm1Hht
involves: 129S7/SvEvBrd * C57BL/6J
MGI:96783  MP:0001925 male infertility PMID: 11145748 
Lhcgrtm1Cvr Lhcgrtm1Cvr/Lhcgrtm1Cvr
either: 129X1/SvJ-Lhcgr or (involves: 129X1/SvJ * C57BL/6)
MGI:96783  MP:0001925 male infertility PMID: 11145749 
Lhcgrtm1Hht Lhcgrtm1Hht/Lhcgrtm1Hht
involves: 129S7/SvEvBrd * C57BL/6J
MGI:96783  MP:0002687 oligozoospermia PMID: 15514086 
Lhcgrtm1Hht Lhcgrtm1Hht/Lhcgrtm1Hht
involves: 129S7/SvEvBrd * C57BL/6J
MGI:96783  MP:0005147 prostate gland hypoplasia PMID: 11145748 
Lhcgrtm1Cvr Lhcgrtm1Cvr/Lhcgrtm1Cvr
either: 129X1/SvJ-Lhcgr or (involves: 129X1/SvJ * C57BL/6)
MGI:96783  MP:0005147 prostate gland hypoplasia PMID: 11145749 
Lhcgrtm1Hht Lhcgrtm1Hht/Lhcgrtm1Hht
involves: 129S7/SvEvBrd * C57BL/6J
MGI:96783  MP:0003608 prostate gland inflammation PMID: 15514086 
Lhcgrtm1Hht Lhcgrtm1Hht/Lhcgrtm1Hht
involves: 129S7/SvEvBrd * C57BL/6J
MGI:96783  MP:0001922 reduced male fertility PMID: 15514086 
Lhcgrtm1Hht Lhcgrtm1Hht/Lhcgrtm1Hht
involves: 129S7/SvEvBrd * C57BL/6J
MGI:96783  MP:0002254 reproductive system inflammation PMID: 15514086 
Lhcgrtm1Hht Lhcgrtm1Hht/Lhcgrtm1Hht
involves: 129S7/SvEvBrd * C57BL/6J
MGI:96783  MP:0003611 scrotum hypoplasia PMID: 11145748  15514086 
Lhcgrtm1Hht Lhcgrtm1Hht/Lhcgrtm1Hht
involves: 129S7/SvEvBrd * C57BL/6J
MGI:96783  MP:0005148 seminal vesicle hypoplasia PMID: 11145748 
Lhcgrtm1Cvr Lhcgrtm1Cvr/Lhcgrtm1Cvr
either: 129X1/SvJ-Lhcgr or (involves: 129X1/SvJ * C57BL/6)
MGI:96783  MP:0005148 seminal vesicle hypoplasia PMID: 11145749 
Lhcgrtm1Cvr Lhcgrtm1Cvr/Lhcgrtm1Cvr
either: 129X1/SvJ-Lhcgr or (involves: 129X1/SvJ * C57BL/6)
MGI:96783  MP:0004930 small epididymis PMID: 11145749  12604639 
Lhcgrtm1Hht Lhcgrtm1Hht/Lhcgrtm1Hht
involves: 129S7/SvEvBrd * C57BL/6J
MGI:96783  MP:0001127 small ovary PMID: 11145748 
Lhcgrtm1Cvr Lhcgrtm1Cvr/Lhcgrtm1Cvr
either: 129X1/SvJ-Lhcgr or (involves: 129X1/SvJ * C57BL/6)
MGI:96783  MP:0001127 small ovary PMID: 11145749 
Lhcgrtm1Hht Lhcgrtm1Hht/Lhcgrtm1Hht
involves: 129S7/SvEvBrd * C57BL/6J
MGI:96783  MP:0005188 small penis PMID: 11145748  15514086 
Lhcgrtm1Cvr Lhcgrtm1Cvr/Lhcgrtm1Cvr
either: 129X1/SvJ-Lhcgr or (involves: 129X1/SvJ * C57BL/6)
MGI:96783  MP:0005188 small penis PMID: 11145749 
Lhcgrtm1Cvr Lhcgrtm1Cvr/Lhcgrtm1Cvr
either: 129X1/SvJ-Lhcgr or (involves: 129X1/SvJ * C57BL/6)
MGI:96783  MP:0002774 small prostate gland PMID: 11145749 
Lhcgrtm1Hht Lhcgrtm1Hht/Lhcgrtm1Hht
involves: 129S7/SvEvBrd * C57BL/6J
MGI:96783  MP:0000664 small prostate gland anterior lobe PMID: 15514086 
Lhcgrtm1Hht Lhcgrtm1Hht/Lhcgrtm1Hht
involves: 129S7/SvEvBrd * C57BL/6J
MGI:96783  MP:0001157 small seminal vesicle PMID: 15514086 
Lhcgrtm1Cvr Lhcgrtm1Cvr/Lhcgrtm1Cvr
either: 129X1/SvJ-Lhcgr or (involves: 129X1/SvJ * C57BL/6)
MGI:96783  MP:0001157 small seminal vesicle PMID: 11145749 
Lhcgrtm1Hht Lhcgrtm1Hht/Lhcgrtm1Hht
involves: 129S7/SvEvBrd * C57BL/6J
MGI:96783  MP:0001153 small seminiferous tubules PMID: 11145748  15514086 
Lhcgrtm1Cvr Lhcgrtm1Cvr/Lhcgrtm1Cvr
either: 129X1/SvJ-Lhcgr or (involves: 129X1/SvJ * C57BL/6)
MGI:96783  MP:0001153 small seminiferous tubules PMID: 11145749 
Lhcgrtm1Hht Lhcgrtm1Hht/Lhcgrtm1Hht
involves: 129S7/SvEvBrd * C57BL/6J
MGI:96783  MP:0001147 small testis PMID: 11145748 
Lhcgrtm1Cvr Lhcgrtm1Cvr/Lhcgrtm1Cvr
either: 129X1/SvJ-Lhcgr or (involves: 129X1/SvJ * C57BL/6)
MGI:96783  MP:0001940 testicular hypoplasia PMID: 11145749 
Lhcgrtm1Cvr Lhcgrtm1Cvr/Lhcgrtm1Cvr
either: 129X1/SvJ-Lhcgr or (involves: 129X1/SvJ * C57BL/6)
MGI:96783  MP:0008258 thin endometrium PMID: 11145749 
Lhcgrtm1Cvr Lhcgrtm1Cvr/Lhcgrtm1Cvr
either: 129X1/SvJ-Lhcgr or (involves: 129X1/SvJ * C57BL/6)
MGI:96783  MP:0008257 thin myometrium PMID: 11145749 
Lhcgrtm1Hht Lhcgrtm1Hht/Lhcgrtm1Hht
involves: 129S7/SvEvBrd * C57BL/6J
MGI:96783  MP:0009088 thin uterine horn PMID: 11145748 
Lhcgrtm1Hht Lhcgrtm1Hht/Lhcgrtm1Hht
involves: 129S7/SvEvBrd * C57BL/6J
MGI:96783  MP:0009081 thin uterus PMID: 11145748 
Lhcgrtm1Cvr Lhcgrtm1Cvr/Lhcgrtm1Cvr
either: 129X1/SvJ-Lhcgr or (involves: 129X1/SvJ * C57BL/6)
MGI:96783  MP:0009081 thin uterus PMID: 11145749 
Lhcgrtm1Hht Lhcgrtm1Hht/Lhcgrtm1Hht
involves: 129S7/SvEvBrd * C57BL/6J
MGI:96783  MP:0009214 vas deferens hypoplasia PMID: 15514086 
Clinically-Relevant Mutations and Pathophysiology Click here for help
Disease:  Leydig cell hypoplasia due to complete LH resistance
Orphanet: ORPHA96265
Disease:  Leydig cell hypoplasia due to partial LH resistance
Orphanet: ORPHA96266
Disease:  Leydig cell hypoplasia, type 1
OMIM: 238320
Orphanet: ORPHA755
Disease:  Precocious puberty, male-limited
Synonyms: Familial male-limited precocious puberty [Orphanet: ORPHA3000]
OMIM: 176410
Orphanet: ORPHA3000
Comments: 
References:  23
Biologically Significant Variants Click here for help
Type:  Single nucleotide polymorphisms and splice variants
Species:  Human
Description:  A number of inactivating single nucleotide polymorphisms have been identified in the human LHCGR gene, encoding (partially) inactive LH receptors.

In (genetic) males (46XY) LH receptor inactivating mutations reduce testosterone production and therefore cause absence of male sex differentiation. This condition is called 46XY pseudohermaphroditism, the patient but being genetically male with a complete set of genes (unlike true hermaphroditism where there is a defect in the sex-determining gene, SRY) but appearing female due to lack of testosterone.

In females (46XX) the presence of LH receptor inactivating mutations is less obvious as they have a normal female phenotype. However they suffer from lack of follicular maturation and ovulation, amenhorrhea, hypoestrogenicity and infertility.
References:  23
Type:  Polymorphism
Species:  Human
Description:  A polymorphism, insLQ at position 18 in the signal peptide, has been associated with decreased survival in breast cancer patients.
References:  19

References

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15. Müller T, Gromoll J, Simoni M. (2003) Absence of exon 10 of the human luteinizing hormone (LH) receptor impairs LH, but not human chorionic gonadotropin action. J Clin Endocrinol Metab, 88 (5): 2242-9. [PMID:12727981]

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18. Palmer SS, Mckenna S, Arkinstall S. (2005) Discovery of new molecules for the future treatment of infertility. Reproductive Biomedicine Online 10 Suppl (Proceedings: Gonadotropins from Basic Research to Clinical Practice; Munich Germany,: 45-54.

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