ABCA7

ABCA7 is a gene that in humans is encoded by the ABCA7 protein. 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. ABCA7 has been implicated in the pathogenesis of Alzheimer's disease, and genetic variations in the ABCA7 gene have been associated with an increased risk of late-onset Alzheimer's disease.

Function

The ABCA7 protein is a member of the ABC transporters, which utilize the energy of ATP hydrolysis to carry out certain biological processes, including transmembrane transport of various molecules. ABCA7 is highly expressed in the brain and is involved in the regulation of lipid metabolism, including the transport of cholesterol and phospholipids.

Clinical significance

Several studies have identified a link between genetic variations in the ABCA7 gene and an increased risk of late-onset Alzheimer's disease. The exact mechanism by which ABCA7 contributes to Alzheimer's disease is not fully understood, but it is thought to be related to its role in lipid metabolism and the regulation of amyloid-beta production.

Research

Research into the role of ABCA7 in Alzheimer's disease is ongoing. Understanding the function of ABCA7 and its role in disease pathogenesis may lead to the development of new therapeutic strategies for Alzheimer's disease.

See also

• ATP-binding cassette transporter
• Alzheimer's disease
• Lipid metabolism
• Amyloid-beta

References

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