BLOC-2 Complex Member HPS6

Preferred Label : BLOC-2 Complex Member HPS6;

NCIt synonyms : Ruby-Eye Protein Homolog; Hermansky-Pudlak Syndrome 6 Protein; Ru; HPS6;

NCIt definition : BLOC-2 complex member HPS6 (775 aa, 83 kDa) is encoded by the human HPS6 gene. This protein plays a role in connecting dynein-dynactin motor complexes to lysosomes and the biogenesis of platelet dense granules, mast cell granules and melanosomes.;

Details

Origin ID

C201758;

OMIM relation
- Hps6 biogenesis of lysosomal organelles complex 2, subunit 3 [OMIM gene]
gene_encodes_gene_product
- HPS6 Gene [NCIt concept]
- Structural Protein Gene [NCIt concept]
gene_product_has_associated_anatomy
- Cytoplasm [NCIt concept]
- Early Endosome [NCIt concept]
- Membrane of the Endosome [NCIt concept]
- Membrane of the Lysosome [NCIt concept]
gene_product_has_biochemical_function
- Scaffolding Protein [NCIt concept]
gene_product_plays_role_in_biological_process
- Intracellular Transport [NCIt concept]
- Melanogenesis [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients