NCIt synonyms : Adaptor Related Protein Complex 3, Beta-1 Subunit Gene; PE; Pearl, Mouse, Homolog of Gene; ADTB3A; AP-3 Complex Beta-3A Subunit Gene; ADTB3; Adaptin, Beta-3A Gene; Adaptor Related Protein Complex 3 Beta 1 Subunit Gene; HPS2; Adaptor Related Protein Complex 3 Subunit Beta 1 wt Allele; Beta-3A Gene; HPS;
NCIt definition : Human AP3B1 wild-type allele is located in the vicinity of 5q14.1 and is approximately
294 kb in length. This allele, which encodes AP-3 complex subunit beta-1 protein,
plays a role in intracellular protein sorting. Mutation of the gene is associated
with Hermansky-Pudlak syndrome 2.;
OMIM relation
