Entrez gene ID | | 11234 |
Official gene symbol | | HPS5 |
Full name | | Hermansky-Pudlak syndrome 5 |
Aliases | | ,AIBP63,KIAA1017, |
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] |
Location | | Chromosome: 11 Locus: 11p14 |
Gene position | | 18343721 - 18300217 Map Viewer |
Gene orientation | | minus |
Gene size | | 43505 bp |
Gene sequence |
| |
OMIM ID | | 607521 |
|