AP3B1

AP3B1 is a gene in humans that encodes the beta subunit of the adaptor-related protein complex 3, which is located in the cytoplasm. The encoded protein is part of a complex involved in the creation of intracellular trafficking pathways. Mutations in this gene are associated with the Hermansky-Pudlak syndrome type 2.

Function

The AP3B1 gene provides instructions for making a protein that is part of a larger group of proteins known as the adaptor protein complex 3 (AP-3 complex). The AP-3 complex plays a crucial role in the transport of proteins and other molecules within cells. Specifically, it helps move certain materials from the Golgi apparatus, which is a cell structure that processes and packages proteins, to structures called lysosomes and related structures called melanosomes.

Clinical significance

Mutations in the AP3B1 gene cause Hermansky-Pudlak syndrome type 2. This condition is one of a group of related conditions called the Hermansky-Pudlak syndromes, which are characterized by a reduced ability to form blood clots, problems with eye and skin pigmentation, and often, lung disease and bowel disease. The AP3B1 gene mutations that cause Hermansky-Pudlak syndrome type 2 result in the production of an abnormally functioning AP-3 complex, which disrupts the normal transport of proteins and other materials within cells.

See also

• Adaptor protein
• Hermansky-Pudlak syndrome

References

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External links

• NCBI Gene
• Genetics Home Reference