Gene Symbol | AP3B1 |
Entrez Gene ID | 8546 |
Full Name | adaptor related protein complex 3 beta 1 subunit |
Synonyms | ADTB3,ADTB3A,HPS,HPS2,PE |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is part of the heterotetrameric AP-3 protein complex which interacts with the scaffolding protein clathrin. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2012]. |
Disorder MIM: | |
Disorder Html: | Hermansky-Pudlak syndrome 2, 608233 (3) |