ABCA2

ABCA2, also known as ATP-binding cassette sub-family A member 2, is a protein that in humans is encoded by the ABCA2 gene. It is a member of the ATP-binding cassette transporters, a large family of proteins that transport various molecules across the extra- and intra-cellular membranes.

Function

ABCA2 is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. The full transport function of ABCA2 is not yet clearly defined, but it is thought to play a role in lipid homeostasis and the regulation of cholesterol.

Clinical significance

Mutations in the ABCA2 gene have been associated with a number of diseases, including Alzheimer's disease, Parkinson's disease, and cancer. In Alzheimer's disease, ABCA2 is thought to play a role in the accumulation of amyloid beta in the brain, a key event in the pathogenesis of the disease. In cancer, overexpression of ABCA2 has been observed in several types of tumors, suggesting a role in tumor progression.

See also

• ATP-binding cassette transporter
• Alzheimer's disease
• Parkinson's disease
• Cancer

External links

• NCBI Gene
• UniProt