Recombinant Human NADH-cytochrome b5 reductase 3 (CYB5R3), Truncated

Uniprot Id

P00387

Target Species

Human

Target Name

CYB5R3

Target Full Name

NADH-cytochrome b5 reductase 3

Target Function

Desaturation and elongation of fatty acids, cholesterol biosynthesis, drug metabolism, and, in erythrocyte, methemoglobin reduction.

Target Involvement

Methemoglobinemia CYB5R3-related (METHB-CYB5R3)

Target Subcellular Location

[Isoform 1]: Endoplasmic reticulum membrane; Lipid-anchor; Cytoplasmic side. Mitochondrion outer membrane; Lipid-anchor; Cytoplasmic side.; [Isoform 2]: Cytoplasm. Note=Produces the soluble form found in erythrocytes.

Target Protein Families

Flavoprotein pyridine nucleotide cytochrome reductase family

Target Tissue Specificity

Isoform 2 is expressed at late stages of erythroid maturation.

Target Synonyms

B5R; Cyb5r3; Cytochrome b5 reductase 3; 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

Target Background

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.