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HPS1

Official Full Name
HPS1 biogenesis of lysosomal organelles complex 3 subunit 1
Organism
Homo sapiens
GeneID
3257
Background
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. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on chromosome 22. [provided by RefSeq, Aug 2015]
Synonyms
HPS; BLOC3S1;

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