Gene Symbol | HPS5 |
Entrez Gene ID | 11234 |
Full Name | HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 |
Synonyms | AIBP63,BLOC2S2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 6 protein and may interact with the cytoplasmic domain of integrin, alpha-3. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 5. Multiple transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Hermansky-Pudlak syndrome 5, 614074 (3) |