XPFERCC1

XPFERCC1 is a protein-coding gene located on chromosome 19q13.3. It encodes the protein ferric-chelate reductase 1 (FCR1), which is a member of the ferric-chelate reductase family. FCR1 is involved in the reduction of ferric iron to ferrous iron, a process essential for iron homeostasis and the prevention of iron-catalyzed oxidative damage. The gene is expressed in various tissues, including the liver, kidney, and brain, and its expression is regulated by iron levels and oxidative stress.

Mutations in XPFERCC1 have been associated with a rare genetic disorder known as X-linked sideroblastic anemia (XLSA). XLSA is characterized by the accumulation of iron in the bone marrow, leading to ineffective erythropoiesis and anemia. The disease is caused by a deficiency in FCR1, which results in impaired iron reduction and increased iron deposition in the bone marrow.

The protein encoded by XPFERCC1 is a homodimer with each monomer consisting of approximately 200 amino acids. The structure of FCR1 is characterized by a conserved ferric-chelate reductase domain, which is responsible for the catalytic activity of the protein. The domain is composed of two subdomains, each containing a conserved histidine residue that is essential for the reduction of ferric iron.

In summary, XPFERCC1 is a protein-coding gene that encodes the protein ferric-chelate reductase 1 (FCR1). FCR1 is involved in iron homeostasis and the prevention of iron-catalyzed oxidative damage. Mutations in XPFERCC1 have been associated with X-linked sideroblastic anemia (XLSA), a rare genetic disorder characterized by the accumulation of iron in the bone marrow. The protein encoded by XPFERCC1 is a homodimer with a conserved ferric-chelate reductase domain responsible for its catalytic activity.