Gene Symbol | HPS1 |
Entrez Gene ID | 3257 |
Full Name | HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 |
Synonyms | BLOC3S1,HPS |
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. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on chromosome 22. [provided by RefSeq, Aug 2015]. |
Disorder MIM: | |
Disorder Html: | Hermansky-Pudlak syndrome 1, 203300 (3) |