NP_000389.1
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
38,226 Da
NCBI Official Full Name
NADH-cytochrome b5 reductase 3 isoform 1
NCBI Official Synonym Full Names
cytochrome b5 reductase 3
NCBI Official Synonym Symbols
NCBI Protein Information
NADH-cytochrome b5 reductase 3
UniProt Protein Name
NADH-cytochrome b5 reductase 3
UniProt Synonym Protein Names
Diaphorase-1
UniProt Synonym Gene Names
UniProt Entry Name
NB5R3_HUMAN
NCBI Summary for CYB5R3
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]
UniProt Comments for CYB5R3
CYB5R3: Desaturation and elongation of fatty acids, cholesterol biosynthesis, drug metabolism, and, in erythrocyte, methemoglobin reduction. Defects in CYB5R3 are the cause of methemoglobinemia CYB5R3-related (METHB-CYB5R3). A form of methemoglobinemia, a hematologic disease characterized by the presence of excessive amounts of methemoglobin in blood cells, resulting in decreased oxygen carrying capacity of the blood, cyanosis and hypoxia. There are two types of methemoglobinemia CYB5R3-related. In type 1, the defect affects the soluble form of the enzyme, is restricted to red blood cells, and causes well- tolerated methemoglobinemia. In type 2, the defect affects both the soluble and microsomal forms of the enzyme and is thus generalized, affecting red cells, leukocytes and all body tissues. Type 2 methemoglobinemia is associated with mental deficiency and other neurologic symptoms. Belongs to the flavoprotein pyridine nucleotide cytochrome reductase family. 3 isoforms of the human protein are produced by alternative promoter.
Protein type: Carbohydrate Metabolism - amino sugar and nucleotide sugar; Oxidoreductase; EC 1.6.2.2; Mitochondrial
Chromosomal Location of Human Ortholog: 22q13.2
Cellular Component: cytoplasm; endoplasmic reticulum; endoplasmic reticulum membrane; hemoglobin complex; lipid particle; membrane; mitochondrial inner membrane; mitochondrial outer membrane; mitochondrion
Molecular Function: ADP binding; AMP binding; cytochrome-b5 reductase activity; FAD binding; NAD binding
Biological Process: blood circulation; cholesterol biosynthetic process; L-ascorbic acid metabolic process
Disease: Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Research Articles on CYB5R3
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Pathways associated with anti-CYB5R3 antibody
Diseases associated with anti-CYB5R3 antibody
Organs/Tissues associated with anti-CYB5R3 antibody
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