CYB5R3 è un gene codificato dal simbolo CYB5R3. Altri nomi includono: NADH-cytochrome b5 reductase 3; B5R; Diaphorase-1; DIA1. CYB5R3 ha una massa di 34.24kDa, una lunghezza di amminoacidi di 301, ed è implicato in Methemoglobinemia CYB5R3-related.
Offriamo 11 anticorpi contro CYB5R3, allevati nel Coniglio e Capra, che sono adatti per WB, IHC, ELISA, ICC/IF e Dot con campioni derivati da Umano, Topo, Ratto e Maiale.
Informazioni su geni e proteine
Riepilogo UniProt
Desaturation and elongation of fatty acids, cholesterol biosynthesis, drug metabolism, and, in erythrocyte, methemoglobin reduction.
Sommario di Entrez
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.
Specificità del tessuto
Isoform 2 is expressed at late stages of erythroid maturation.
Coinvolgimento nella malattia
Methemoglobinemia CYB5R3-related: 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.
Somiglianze di sequenza
Belongs to the flavoprotein pyridine nucleotide cytochrome reductase family.
Posizione cellulare
Endoplasmic reticulum membrane. Mitochondrion outer membrane.