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The official name of this gene is “adaptor-related protein complex 3, beta 1 subunit.”
AP3B1 is the gene's official symbol. The AP3B1 gene is also known by other names, listed below.
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]
Subunit of non-clathrin- and clathrin-associated adaptor protein complex 3 (AP-3) that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. AP-3 appears to be involved in the sorting of a subset of transmembrane proteins targeted to lysosomes and lysosome-related organelles. In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals.
Hermansky-Pudlak syndrome 2 (HPS2): A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. HPS2 differs from the other forms of HPS in that it includes immunodeficiency in its phenotype and patients with HPS2 have an increased susceptibility to infections. The disease is caused by mutations affecting the gene represented in this entry.
|608233 (http://omim.org/entry/608233)||HERMANSKY-PUDLAK SYNDROME 2|
|603401 (http://omim.org/entry/603401)||ADAPTOR-RELATED PROTEIN COMPLEX 3, BETA-1 SUBUNIT|
Cytogenetic Location: 5q14.1
Molecular Location on chromosome 5: base pairs 78,002,325 to 78,294,754
The AP3B1 gene is located on the long (q) arm of chromosome 5 at position 14.1.
More precisely, the AP3B1 gene is located from base pair 78,002,325 to base pair 78,294,754 on chromosome 5.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about AP3B1 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
albinism ; autosomal ; autosomal recessive ; cell ; ceroid ; deficiency ; endosomes ; fibrosis ; gene ; immunodeficiency ; isoforms ; lysosome ; mediate ; mutation ; organelle ; phenotype ; protein ; pulmonary ; recessive ; retina ; subunit ; susceptibility ; syndrome ; TGN ; transcript ; trans-Golgi network ; transmembrane
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.