Aliases for CYB5R3 Gene
External Ids for CYB5R3 Gene
Previous HGNC Symbols for CYB5R3 Gene
Previous GeneCards Identifiers for CYB5R3 Gene
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. [provided by RefSeq, Jan 2010]
GeneCards Summary for CYB5R3 Gene
CYB5R3 (Cytochrome B5 Reductase 3) is a Protein Coding gene. Diseases associated with CYB5R3 include Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase and Congenital Methemoglobinemia. Among its related pathways are Metabolism of water-soluble vitamins and cofactors and Innate Immune System. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and NAD binding. An important paralog of this gene is CYB5R1.
UniProtKB/Swiss-Prot Summary for CYB5R3 Gene
Desaturation and elongation of fatty acids, cholesterol biosynthesis, drug metabolism, and, in erythrocyte, methemoglobin reduction.