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HPS5, HPS5 biogenesis of lysosomal organelles complex 2 subunit 2

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HPS5, HPS5 biogenesis of lysosomal organelles complex 2 subunit 2

  • 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]

  • Gene Synonyms (Hermansky-Pudlak syndrome 5 protein, alpha integrin binding protein 63, ruby-eye protein 2 homolog, AIBP63, BLOC2S2,)
  • NCBI Gene ID: 11234
  • Species: Homo sapiens (Human)
  • UNIPROT ID#>>Q9UPZ3
  • View the NCBI Database for this Gene »

The information on this page was collected from publicly accessible databases, and is periodically updated. Promega makes no claims to accuracy, or ownership of these genes.

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The information on this page was collected from publicly accessible databases, and is periodically updated. Promega makes no claims to accuracy, or ownership of these genes.

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