Gene Symbol | HPS4 |
Entrez Gene ID | 89781 |
Full Name | HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 |
Synonyms | BLOC3S2,LE |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a protein component of biogenesis of lysosome-related organelles complexes (BLOC). BLOC complexes are important for the formation of endosomal-lysosomal organelles such as melanosomes and platelet dense granules. Mutations in this gene result in subtype 4 of Hermansky-Pudlak syndrome, a form of albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]. |
Disorder MIM: | |
Disorder Html: | Hermansky-Pudlak syndrome 4, 614073 (3) |