HAP1 knockout cell lines

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HAP1 Parental Cell Lines available

BLOC1S5 ( Human )

Entrez Gene 63915 entrezgene 63915
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biogenesis of lysosomal organelles complex 1 subunit 5

Alias

BLOS5 | MUTED

This gene encodes a component of BLOC-1 (biogenesis of lysosome-related organelles complex 1). Components of this complex are involved in the biogenesis of organelles such as melanosomes and platelet-dense granules. A mouse model for Hermansky-Pudlak Syndrome is mutated in the murine version of this gene. Alternative splicing results in multiple transcript variants. Read-through transcription exists between this gene and the upstream EEF1E1 (eukaryotic translation elongation factor 1 epsilon 1) gene, as well as with the downstream TXNDC5 (thioredoxin domain containing 5) gene. [provided by RefSeq, Dec 2010].