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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
References[edit | edit source]
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Contributors: Prab R. Tumpati, MD