ABCB8

ABCB8 is a protein that in humans is encoded by the ABCB8 gene. It is a member of the ATP-binding cassette transporter sub-family B. This protein is a mitochondrial ATP-binding cassette transporter, involved in mitochondrial iron homeostasis and protection against oxidative stress.

Function

The ABCB8 protein is a member of the M-ABC subfamily, which is involved in iron metabolism. It is expressed in the mitochondria, where it plays a crucial role in iron homeostasis and protection against oxidative stress. The ABCB8 protein is thought to transport certain metabolites, including heme and steroids, across the mitochondrial membrane.

Clinical significance

Mutations in the ABCB8 gene have been associated with various diseases, including cardiomyopathy, diabetes, and neurodegenerative diseases. Studies have shown that a deficiency in ABCB8 can lead to mitochondrial iron overload, which can cause damage to the heart muscle and other tissues.

Research

Research on the ABCB8 gene and its protein product is ongoing, with studies focusing on its role in iron metabolism and its potential as a therapeutic target for diseases related to iron overload and oxidative stress.

See also

• ATP-binding cassette transporter
• Mitochondria
• Iron metabolism
• Oxidative stress