The ABCB7 gene provides instructions for making a protein known as an ATP-binding cassette (ABC) transporter. ABC transporter proteins carry many types of molecules across cell membranes.
The ABCB7 protein is located in the inner membrane of cell structures called mitochondria. Mitochondria are the energy-producing centers of cells, but they are also involved in a variety of cellular activities, including chemical signaling and the regulation of cell growth and division.
In the mitochondria of developing red blood cells (erythroblasts), the ABCB7 protein plays a critical role in the production of heme. Heme contains iron and is required for cell processes such as energy production and molecule transport. Most importantly, heme is a component of hemoglobin, the protein that carries oxygen in the blood.
The ABCB7 protein is also involved in the formation of clusters of iron and sulfur atoms (Fe-S clusters). The ABCB7 protein transports a sulfur-containing compound from mitochondria to the surrounding cellular fluid (cytosol), where Fe-S clusters are formed. These clusters are then incorporated into proteins. Proteins that contain Fe-S clusters are necessary for many functions, including the maintenance of cells and genes.
The ABCB7 protein appears to play a key role in maintaining an appropriate balance of iron (iron homeostasis) in erythroblasts.
Other Names
ABCB7_HUMAN; ATP-binding cassette 7
Related Genetics Topics
Identifiers
- NCBI Gene: 22
- OMIM: 300135
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
