Rahul Sharma (Editor)

HPS5

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Species
  
Entrez
  
11234

Human
  
Ensembl
  
ENSG00000110756

HPS5

Aliases
  
HPS5, AIBP63, BLOC2S2, biogenesis of lysosomal organelles complex 2 subunit 2

External IDs
  
MGI: 2180307 HomoloGene: 35333 GeneCards: HPS5

Hermansky-Pudlak syndrome 5 protein is a protein that in humans is encoded by the HPS5 gene.

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.

References

HPS5 Wikipedia


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