Gene and Protein Information
Species	TM	AA	Chromosomal Location	Gene Symbol	Gene Name	Reference
Human	-	648	17q11.2	FOXN1	forkhead box N1
Mouse	-	648	11 46.74 cM	Foxn1	forkhead box N1
Rat	-	473	10q25	Foxn1	forkhead box N1
Gene and Protein Information Comments
A second transcript variant encoding a shorter protein isoform (isoform 2; 647 amino acids; NP_001264219) has been detected in mouse.

Previous and Unofficial Names

FKHL20 | RONU | WHN | winged-helix nude

Database Links
Alphafold	O15353 (Hs), Q61575 (Mm)
Ensembl Gene	ENSG00000109101 (Hs), ENSMUSG00000002057 (Mm), ENSRNOG00000010870 (Rn)
Entrez Gene	8456 (Hs), 15218 (Mm), 287469 (Rn)
Human Protein Atlas	ENSG00000109101 (Hs)
KEGG Gene	hsa:8456 (Hs), mmu:15218 (Mm), rno:287469 (Rn)
OMIM	600838 (Hs)
Pharos	O15353 (Hs)
RefSeq Nucleotide	NM_003593 (Hs), NM_008238 (Mm), NM_001100648 (Rn)
RefSeq Protein	NP_003584 (Hs), NP_032264 (Mm), NP_001094118 (Rn)
UniProtKB	O15353 (Hs), Q61575 (Mm)
Wikipedia	FOXN1 (Hs)

Immunopharmacology Comments

FOXN1 deficiency has been identified as the cause of the nude severe combined immunodeficiency (SCID) phenotype in mice and humans [2-3].

Immuno Process Associations

Immuno Process:  T cell (activation)

Immuno Process:  Immune regulation

Immuno Process:  Immune system development

Immuno Process:  Cellular signalling

Clinically-Relevant Mutations and Pathophysiology

Disease:  severe combined immunodeficiency, autosomal recessive, due to FOXN1 deficiency. Description: In FOXN1 deficiency in humans is the counterpart of the nude SCID mouse phenotype. The clinical hallmarks are athymia with severe T cell immunodeficiency, congenital alopecia, and nail dystrophy. Synonyms: T-cell immunodeficiency, congenital alopecia, and nail dystrophy OMIM: 601705 Comments:  A very rare condition. Hematopoietic stem cell transplantation (HSCT) is the appropriate treatment, aiming to reconstitute the immune system. HSCT must begin before the onset of life-threatening infections and other complications. References:  1

Biologically Significant Variants
Type:  Single nucleotide polymorphism Species:  Human Description:  Homozygous 792C-T nucleotide transition in the N-terminus exon 5 of FOXN1, creates a premature stop codon and produces a non-functional protein. Amino acid change:  R255X Nucleotide change:  C792T
Type:  Single nucleotide polymorphism Species:  Human Description:  S188fs represents a frameshift mutation in the FOXN1 gene that results in a truncated and non-functional protein. Amino acid change:  S188fs
Type:  Single nucleotide polymorphism Species:  Human Description:  A missense mutation in the FOXN1 gene that produces a protein that cannot bind DNA, and thus exhibits impaired transcriptional regulation of target genes. Amino acid change:  R320W Nucleotide change:  C987T

General Comments
FOX N1 is a winged-helix, or forkhead motif-containing transcription factor (TF). The forkhead motif facilitates DNA binding. Forkhead TFs are important regulators of the expression of genes involved in cell growth, proliferation, differentiation, and longevity, and are important during embryonic development.