HAP1 knockout cell lines

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HAP1 Parental Cell Lines available

HPS1 ( Human )

Entrez Gene 3257 entrezgene 3257
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HPS1, biogenesis of lysosomal organelles complex 3 subunit 1

Alias

BLOC3S1 | HPS

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].