BLOC-1 subunit 3
BLOC-1 subunit 3 is a protein that in humans is encoded by the BLOC1S3 gene.[5][6] This protein is a component of BLOC-1 (Biogenesis of lysosome-related organelles complex), which is involved in the biogenesis of certain organelles like melanosomes and dense granules in platelets.[6] Also called HPS8, mutations in the gene BLOC1S3 are associated with type 8 Hermansky–Pudlak syndrome.[6]
References
[edit]- 1 2 3 GRCh38: Ensembl release 89: ENSG00000189114 – Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000057667 – Ensembl, May 2017
- ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ Starcevic M, Dell'Angelica EC (Jun 2004). "Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1)". J Biol Chem. 279 (27): 28393–401. doi:10.1074/jbc.M402513200. PMID 15102850.
- 1 2 3 "Entrez Gene: BLOC1S3 biogenesis of lysosomal organelles complex 1 subunit 3".
External links
[edit]- Human BLOC1S3 genome location and BLOC1S3 gene details page in the UCSC Genome Browser.
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