NCIt synonyms : Ruby-Eye, Mouse, Homolog of Gene; FLJ22501; Pale Ear, Mouse, Homolog of Gene; 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.;
OMIM relation
