CYB5R3 ist ein Gen, das durch das Symbol CYB5R3 kodiert wird. Andere Namen sind: NADH-cytochrome b5 reductase 3; B5R; Diaphorase-1; DIA1. CYB5R3 hat eine Masse von 34.24kDa, eine Aminosäurelänge von 301, und ist an Methemoglobinemia CYB5R3-related beteiligt.
Wir bieten 11 antikörper gegen CYB5R3, aufgewachsen in Kaninchen und Ziege, welche geeignet sind für WB, IHC, ELISA, ICC/IF and Dot mit Proben abgeleitet von Human, Maus, Ratte und Schwein.
Gen- und Proteininformationen
UniProt Zusammenfassung
Desaturation and elongation of fatty acids, cholesterol biosynthesis, drug metabolism, and, in erythrocyte, methemoglobin reduction.
Entrez Zusammenfassung
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.
Gewebespezifität
Isoform 2 is expressed at late stages of erythroid maturation.
Rolle bei Krankheiten
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.
Sequenzähnlichkeiten
Belongs to the flavoprotein pyridine nucleotide cytochrome reductase family.
Zellort
Endoplasmic reticulum membrane. Mitochondrion outer membrane.