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Genetics Home Reference: your guide to understanding genetic conditions
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AP3B1

The information on this page was automatically extracted from online scientific databases.

What is the official name of the AP3B1 gene?

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.

What is the normal function of the AP3B1 gene?

From NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/8546):

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]

From UniProt (http://www.uniprot.org/uniprot/O00203):

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.

How are changes in the AP3B1 gene related to health conditions?

Genetics Home Reference provides information about Hermansky-Pudlak syndrome, which is associated with changes in the AP3B1 gene.
UniProt (http://www.uniprot.org/uniprot/O00203) provides the following information about the AP3B1 gene's known or predicted involvement in human disease.

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.

NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/8546) lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the AP3B1 gene.
  • Hermansky Pudlak syndrome 2
OMIM.org (http://omim.org/), a catalog designed for genetics professionals and researchers, provides the following information about the AP3B1 gene and its association with health conditions.
OMIM
Number
Title

Where is the AP3B1 gene located?

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.

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.

Where can I find additional information about AP3B1?

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.

What other names do people use for the AP3B1 gene or gene products?

  • ADTB3
  • ADTB3A
  • HPS
  • HPS2
  • PE

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding AP3B1?

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.

 
Published: December 22, 2014