| 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 |
|
| 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) |
User Manual