ABCG4

ABCG4 is a gene that in humans encodes the ATP-binding cassette sub-family G member 4 protein. This protein is a member of the superfamily of ATP-binding cassette (ABC) transporters, which transport various molecules across extra- and intra-cellular membranes.

Function

The ABCG4 protein is a half-transporter that likely plays a role in multi-drug resistance. Half-transporters, like ABCG4, are believed to function as homodimers or heterodimers. ABCG4 is expressed in several tissues, with the highest expression in the brain and retina. It is thought to play a role in the transport of lipids and sterols, which are essential for normal brain function and vision.

Clinical significance

Mutations in the ABCG4 gene have been associated with several diseases. For example, a mutation in this gene has been linked to Stargardt disease, a form of juvenile macular degeneration. Additionally, ABCG4 has been implicated in the development of atherosclerosis, as it may play a role in the efflux of cholesterol from cells.

Research

Research into the function and potential therapeutic applications of ABCG4 is ongoing. For example, studies are investigating whether modulating the activity of ABCG4 could be a potential treatment strategy for diseases such as atherosclerosis and Stargardt disease.

See also

• ATP-binding cassette transporter
• Stargardt disease
• Atherosclerosis

References

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