HPS6 wt Allele

Preferred Label : HPS6 wt Allele;

NCIt synonyms : Ruby-Eye, Mouse, Homolog of Gene; FLJ22501; Hermansky-Pudlak Syndrome-6 Protein (HPS6) Gene; BLOC2S3; Hermansky-Pudlak Syndrome 6 Gene; HPS6 Biogenesis of Lysosomal Organelles Complex 2, Subunit 3 Gene; HPS6 Biogenesis of Lysosomal Organelles Complex 2 Subunit 3 wt Allele;

NCIt definition : Human HPS6 wild-type allele is located in the vicinity of 10q24.32 and is approximately 3 kb in length. This allele, which encodes BLOC-2 complex member HPS6 protein, is involved in the biogenesis of lysosomal-like organelles and retrograde lysosomal trafficking. Mutations in the gene are associated with Hermansky-Pudlak syndrome 6.;

NCI Metathesaurus CUI : CL1920657;

GenBank Accession Number : BC009258;

Details

Origin ID

C201757;

UMLS CUI

C5890893;

OMIM relation
- Hps6 biogenesis of lysosomal organelles complex 2, subunit 3 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 10q24.32 [NCIt concept]
gene_plays_role_in_process
- Intracellular Transport [NCIt concept]
- Melanogenesis [NCIt concept]

Keyword's position in hierarchy(ies) :

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