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Mucolipidosis IV

Disease ID:640
Name:Mucolipidosis IV
Associated with:1 target
Database Links
Disease Ontology: DOID:3343
OMIM: 252650
Orphanet: ORPHA578


Role:  Defective lysosomal functions
References:  1,4
Mutations:  TRPML1 is associated with 16 mutation. Click here for details


No ligand related data available for Mucolipidosis IV


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1. Bargal R, Avidan N, Ben-Asher E, Olender Z, Zeigler M, Frumkin A, Raas-Rothschild A, Glusman G, Lancet D, Bach G. (2000) Identification of the gene causing mucolipidosis type IV. Nat. Genet., 26 (1): 118-23. [PMID:10973263]

2. Dong XP, Cheng X, Mills E, Delling M, Wang F, Kurz T, Xu H. (2008) The type IV mucolipidosis-associated protein TRPML1 is an endolysosomal iron release channel. Nature, 455 (7215): 992-6. [PMID:18794901]

3. Slaugenhaupt SA. (2002) The molecular basis of mucolipidosis type IV. Curr. Mol. Med., 2 (5): 445-50. [PMID:12125810]

4. Sun M, Goldin E, Stahl S, Falardeau JL, Kennedy JC, Acierno JS, Bove C, Kaneski CR, Nagle J, Bromley MC, Colman M, Schiffmann R, Slaugenhaupt SA. (2000) Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel. Hum. Mol. Genet., 9 (17): 2471-8. [PMID:11030752]