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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for HPS5 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID11234
Official gene symbolHPS5
Full nameHermansky-Pudlak syndrome 5
Aliases,AIBP63,KIAA1017,
Gene summaryThis 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]
LocationChromosome: 11   Locus: 11p14
Gene position18343721 - 18300217  Map Viewer
Gene orientationminus
Gene size43505 bp
Gene sequence
OMIM ID607521