NCIt synonyms : Hermansky-Pudlak Syndrome Gene; BLOC3S1; Pale Ear, Mouse, Homolog of Gene; Hermansky-Pudlak Syndrome 1 Gene; HPS1 Biogenesis of Lysosomal Organelles Complex 3, Subunit 1 Gene; HPS1 Biogenesis of Lysosomal Organelles Complex 3 Subunit 1 wt Allele; HPS;
NCIt definition : Human HPS1 wild-type allele is located in the vicinity of 10q24.2 and is approximately
36 kb in length. This allele, which encodes BLOC-3 complex member HPS1 protein, plays
a role in the assembly of lysosomes and melanosomes. Mutation of the gene is associated
with Hermansky-Pudlak syndrome 1.;
OMIM relation
