产品货号 : jlcR12162 英文名称 : CYB5R3 中文名称 : 细胞色素b5还原酶3抗体 别名 : B5R; Cyb5r3; Cytochrome b5 reductase 3; Cytochrome b5 reductase; DIA1; Diaphorase 1; Diaphorase-1; NADH cytochrome b5 reductase 3; NADH-cytochrome b5 reductase 3 membrane-bound form; NADH-cytochrome b5 reductase 3 soluble form; NB5R3_HUMAN; OTTHUMP00000028761; OTTHUMP00000198435; OTTHUMP00000198574; OTTHUMP00000198662; OTTHUMP00000198665. 研究领域 :心血管细胞生物信号转导脂蛋白新陈代谢 抗体来源 : Rabbit 克隆类型: Polyclonal 交叉反应 : Human, Mouse, Rat, Chicken, Dog, Pig, Cow, Horse, Sheep, 产品应用: WB=1:500-2000 ELISA=1:500-1000 not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user. 分子量 : 34kDa 细胞定位 :细胞浆细胞膜 性状 : Lyophilized or Liquid 浓度 : 1mg/ml 免疫原 : KLH conjugated synthetic peptide derived from human CYB5R3:101-200/301 亚型 : IgG 纯化方法 : affinity purified by Protein A 储存液 : 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol. 保存条件 : Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C. PubMed : PubMed 产品介绍 : CYB5R3 is a 301 amino acid protein encoded by the human gene CYB5R3. CYB5R3 belongs to the flavoprotein pyridine nucleotide cytochrome reductase family and has two naturally occuring isoforms. Isoform 1 is anchored to the cytoplasmic side of the endoplasmic reticulum membrane and mitochondrion outer membrane, while isoform 2 is the soluble form found in erythrocytes. CYB5R3 is involved in the desaturation and elongation of fatty acids, cholesterol biosynthesis, drug metabolism and, in erythrocytes, methemoglobin reduction. A serine residue at position 117 seems to only be found in persons of African origin. The allele frequency is 0.23 in African Americans. It is not found in Caucasians, Asians, Indo-Aryans or Arabs. This difference seems to have no effect on the enzyme activity. Defects in CYB5R3 are the cause of hereditary methemoglobinemia (HM). 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; and type 3 (HM3), where the deficiency is seen in all blood cells. Type 2 is a severe form accompanied by mental retardation and neurological impairment.
Function: Desaturation and elongation of fatty acids, cholesterol biosynthesis, drug metabolism, and, in erythrocyte, methemoglobin reduction.
Subunit: Component of a complex composed of cytochrome b5, NADH-cytochrome b5 reductase (CYB5R3) and MOSC2 (By similarity).
Subcellular Location: Endoplasmic reticulum membrane. Mitochondrion outer membrane and Cytoplasm. Produces the soluble form found in erythrocytes.
Tissue Specificity: Isoform 2 is expressed at late stages of erythroid maturation.
DISEASE: Defects in CYB5R3 are the cause of methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]. 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.
Similarity: Belongs to the flavoprotein pyridine nucleotide cytochrome reductase family. Contains 1 FAD-binding FR-type domain.
SWISS: P00387
Gene ID: 1727
Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
