This gene encodes cytochrome b5 reductase, which includes a membrane-bound form in somatic cells (anchored in the;endoplasmic reticulum, mitochondrial and other membranes) and a soluble form in erythrocytes. The membrane-bound form;exists mainly on the cytoplasmic side of the endoplasmic reticulum and functions in desaturation and elongation of;fatty acids, in cholesterol biosynthesis, and in drug metabolism. The erythrocyte form is located in a soluble;fraction of circulating erythrocytes and is involved in methemoglobin reduction. The membrane-bound form has both;membrane-binding and catalytic domains, while the soluble form has only the catalytic domain. Alternate splicing;results in multiple transcript variants. Mutations in this gene cause methemoglobinemias.
CYB5R3; cytochrome b5 reductase 3; DIA1, diaphorase (NADH) (cytochrome b 5 reductase); NADH-cytochrome b5 reductase 3; B5R; Cytochrome b5 reductase; DIA1; Diaphorase 1; Diaphorase-1; NADH cytochrome b5 reductase 3; NADH-cytochrome b5 reductase 3 membrane-bound form; NADH-cytochrome b5 reductase 3 soluble form; NB5R3_HUMAN; OTTHUMP00000028761; OTTHUMP00000198435; OTTHUMP00000198574; OTTHUMP00000198662; OTTHUMP00000198665; fc32h03; zgc:77071; wu:fc32h03