| ncRNA Symbol: | HPS5 | | Full Name: | HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 | | Category: | mRNA | | Synonyms: | AIBP63|BLOC2S2 | | Chromosome: | chr11 | | Strand: | - | | Coordinate: | | Start Site(bp): | 18278668 | End Site(bp): | 18322198 | | | Gene 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] | | External Links: | |
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