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BLOC1S4 - Biogenesis Of Lysosomal Organelles Complex 1 Subunit 4
Alias:
CNO
BLOS4
BCAS4L
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This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. A similar protein in mouse is a component of a protein complex termed biogenesis of lysosome-related organelles complex 1 (BLOC-1), and is a model for Hermansky-Pudlak syndrome. The encoded protein may play a role in intracellular vesicular trafficking. [provided by RefSeq, Jul 2008]
Basic Information
NCBI
Transcripts
Exons
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MW (kDa)
Mutations
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Reference
BLOC1S4 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
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References Literature
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