CYB5R3 Polyclonal Antibody

catalytic activity:NADH + 2 ferricytochrome b5 = NAD(+) + H(+) + 2 ferrocytochrome b5.,cofactor:FAD.,disease:Defects in CYB5R3 are the cause of hereditary methemoglobinemia (HM) [MIM:250800]. There are three forms of this disease: type 1 (HM1) in which the enzyme is only deficient in erythrocytes with a mild cyanosis; type 2 (HM2), in which the enzyme is completely deficient; type 3 (HM3) where the deficiency is seen in all blood cells. Type 2 is a severe form accompanied with mental retardation and neurological impairment.,function:Desaturation and elongation of fatty acids, cholesterol biosynthesis, drug metabolism, and, in erythrocyte, methemoglobin reduction.,polymorphism:Ser-117 seems to only be found in persons of African origin. The allele frequency is 0.23 in African Americans. It was not found in Caucasians, Asians, Indo-Aryans, or Arabs. There seems to be no effect on the enzyme activity.,similarity:Belongs to the flavoprotein pyridine nucleotide cytochrome reductase family.,similarity:Contains 1 FAD-binding FR-type domain.,subcellular location:Produces the soluble form found in erythrocytes.,subunit:Component of a complex composed of cytochrome b5, NADH-cytochrome b5 reductase (CYB5R3) and MOSC2.,tissue specificity:Isoform 2 (soluble form) is expressed at late stages of erythroid maturation.,