Molecular weight (DA)
34kD
Immunogen
The antiserum was produced against synthesized peptide derived from human CYB5R3. AA range:137-186
Specificity
CYB5R3 Polyclonal Antibody detects endogenous levels of CYB5R3 protein.
Formulation
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Dilution rate
WB: 1/500 - 1/2000. IHC: 1/100 - 1/300. ELISA: 1/40000.. IF 1:50-200
Purification process (Immunogen)
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
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. [provided by RefSeq, Jan 2010],
Function
catalytic activity:NADH + 2 ferricytochrome b5 = NAD(+) + H(+) + 2 ferrocytochrome b5.,cofactor:FAD.,disease:Defects in CYB5R3 are the cause of hereditary methemoglobinemia (HM) [MIM:250800]. There are three forms of this disease: type 1 (HM1) in which the enzyme is only deficient in erythrocytes with a mild cyanosis; type 2 (HM2), in which the enzyme is completely deficient; type 3 (HM3) where the deficiency is seen in all blood cells. Type 2 is a severe form accompanied with mental retardation and neurological impairment.,function:Desaturation and elongation of fatty acids, cholesterol biosynthesis, drug metabolism, and, in erythrocyte, methemoglobin reduction.,polymorphism:Ser-117 seems to only be found in persons of African origin. The allele frequency is 0.23 in African Americans. It was not found in Caucasians, Asians, Indo-Aryans, or Arabs. There seems to be no effect on the enzym
Protein name
NADH-cytochrome b5 reductase 3
Other name
CYB5R3; DIA1; NADH-cytochrome b5 reductase 3; B5R; Cytochrome b5 reductase; Diaphorase-1
Fields
>>Amino sugar and nucleotide sugar metabolism
Human protein sequence Database
P00387
Mouse protein sequence database
Q9DCN2
Rat protein sequence database
Cellular localization
[Isoform 1]: Endoplasmic reticulum membrane; Lipid-anchor; Cytoplasmic side. Mitochondrion outer membrane; Lipid-anchor; Cytoplasmic side.; [Isoform 2]: Cytoplasm. Produces the soluble form found in erythrocytes.
Tissue expression
Isoform 2 is expressed at late stages of erythroid maturation.
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