Supriya Ghosh (Editor)

HPS1

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Species
  
Entrez
  
3257

Human
  
Ensembl
  
ENSG00000107521

HPS1

Aliases
  
HPS1, HPS, BLOC3S1, biogenesis of lysosomal organelles complex 3 subunit 1

External IDs
  
MGI: 2177763 HomoloGene: 163 GeneCards: HPS1

Hermansky-Pudlak syndrome 1 protein is a protein that in humans is encoded by the HPS1 gene.

This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Multiple transcript variants encoding distinct isoforms have been identified for this gene; the full-length sequences of some of these have not been determined yet.

References

HPS1 Wikipedia


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