CYB5R3 Human

The CYB5R3 gene is located on chromosome 22 at the specific location 22q13.2. It contains 12 exons and encodes a protein that is approximately 34.2 kDa in size, composed of 301 amino acids . The gene is about 31 kb in length, and its structure includes a membrane-binding domain and a catalytic domain, indicating the existence of both a soluble form and a membrane-bound form of the enzyme .

Cytochrome B5 Reductase 3 is involved in the reduction of methemoglobin to hemoglobin, a critical process for maintaining the proper function of red blood cells . The enzyme also participates in the desaturation and elongation of fatty acids, cholesterol biosynthesis, and drug metabolism . The membrane-bound form of CYB5R3 is primarily found on the cytoplasmic side of the endoplasmic reticulum and mitochondrial membranes, while the soluble form is located in the cytoplasm of erythrocytes .

Mutations in the CYB5R3 gene can lead to methemoglobinemia, a condition characterized by an increased level of methemoglobin in the blood, which can impair the oxygen-carrying capacity of red blood cells . This condition can be congenital or acquired and may result in symptoms such as cyanosis and hypoxia .

Human recombinant Cytochrome B5 Reductase 3 is produced using various expression systems, such as HEK293T cells, to ensure proper folding and functionality of the protein . This recombinant protein is used in research to study the enzyme’s structure, function, and role in various metabolic pathways .