产品名称
CYB5R3 Rabbit Polyclonal Antibody
别名
CYB5R3; DIA1; NADH-cytochrome b5 reductase 3; B5R; Cytochrome b5 reductase; Diaphorase-1
蛋白名称
NADH-cytochrome b5 reductase 3
存储缓冲液
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% New type preservative N.
Human Gene Link
http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=1727
Human Swissprot No.
P00387
Human Swissprot Link
http://www.uniprot.org/uniprotkb/P00387/entry
Mouse Swissprot No.
Q9DCN2
Mouse Swissprot Link
http://www.uniprot.org/uniprot/Q9DCN2
免疫原
The antiserum was produced against synthesized peptide derived from human CYB5R3. AA range:137-186
特异性
CYB5R3 Polyclonal Antibody detects endogenous levels of CYB5R3 protein.
稀释度
WB 1:500 - 1:2000. IHC 1:100 - 1:300. ELISA: 1:40000.. IF 1:50-200
宿主
Polyclonal, Rabbit,IgG
背景介绍
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],
组织表达
Isoform 2 is expressed at late stages of erythroid maturation.
细胞定位
[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.
信号通路
Amino sugar and nucleotide sugar metabolism;
功能
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 enzyme activity.,similarity:Belongs to the flavoprotein pyridine nucleotide cytochrome reductase family.,similarity:Contains 1 FAD-binding FR-type domain.,subcellular location:Produces the soluble form found in erythrocytes.,subunit:Component of a complex composed of cytochrome b5, NADH-cytochrome b5 reductase (CYB5R3) and MOSC2.,tissue specificity:Isoform 2 (soluble form) is expressed at late stages of erythroid maturation.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.