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貨期:
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用途:
For Research Use Only. Not for use in diagnostic or therapeutic procedures.
Desaturation and elongation of fatty acids, cholesterol biosynthesis, drug metabolism, and, in erythrocyte, methemoglobin reduction.
基因功能參考文獻:
study indicated that novel homozygous mutation p.Arg192Cys in CYB5R3 gene present in eight cases and the possibility of high prevalence of heterozygous in Indian population causing Type I recessive congenital methemoglobinemia. PMID: 29482478
CYB5R3 promotes colonization and metastasis formation and is a prognostic marker of disease-free and overall survival in estrogen receptor-negative breast cancer. PMID: 26351264
Genetic variation in CYB5R3 is associated with methemoglobin levels in preterm infants receiving nitric oxide therapy. PMID: 25521918
The results unveil a potential mechanism of action by which CYB5R3 deficiency contributes to the pathophysiological underpinnings of neurological disorders in RHM patients. PMID: 24450884
NADH-CYB5R deficiency causes two forms of recessive congenital methemoglobinemia with cyanosis. PMID: 24266649
Dapsone-associated methemoglobinemia in a patient with slow NAT2*5B haplotype and impaired cytochrome b5 reductase activity PMID: 21422237
A comprehensive overview of the study of structure and function of human cytochrome b5 reductase. PMID: 23113554
Data indicate that mitochondrial amidoxime reducing components 1 and 2 together with the electron transport proteins NADH-cytochrome b5 reductase (CYB5R) and cytochrome b5 (CYB5) catalyze the reduction of N-hydroxylated compounds such as amidoximes. PMID: 23703616
Population frequency and age of c.806C > T mutation in CYB5R3 gene as cause of recessive congenital methemoglobinemia in Yakutia. PMID: 23866629
Novel large deletion c.22-1320_633+1224del in the CYB5R3 gene from patients with hereditary methemoglobinemia PMID: 23297489
CYB5R3 gene of three probands with type I methemoglobinemia and their relatives were sequenced revealing several putative causative mutations; in one subject multiple mutations were present PMID: 21349748
We conclude that Cytochrome b(5)and cytochrome b(5) reductase catalyze the reduction of arylhydroxylamines in breast tissue. PMID: 21447608
novel allelic mutation identified at codon 235 is in helix 5; first report of mental retardation because of the novel mutation, along with a second mutation in the NADH-b5R gene in an Indian family with recessive congenital methemoglobinemia Type II PMID: 21328435
Dia1 is localized to the perinuclear endoplasmic reticulum in an RNA-zipcode-independent manner in fibroblasts. PMID: 21266463
It was shown that Yakut patients have none of three missence mutations, Arg57Gln, Leu72Pro, and Val105Met, described in case of this disease in the neighboring populations, Chinese and Japanese, inhabiting the territories south of Yakutia PMID: 12884529
A decrease of the activity of membrane-bound NADH-methemoglobin reductase and a change of physical state of the lipid bilayer of membranes under oxidative stress were found in erythrocytes in vivo and in vitro. PMID: 15039026
Amino acid substitution results in congsenital methemoglobinemia. PMID: 15297856
crystal structure of cytochrome b(5) reductase PMID: 15502298
Recessive congenital methaemoglobinaemia observed in a Lebanese subject with a novel mutation in NADH-cytochrome b5 reductase gene. PMID: 15813912
A novel intronic mutation at 22163 caused markedly reduced mRNA (7% of normal) resulting in type II methemoglobinemia. PMID: 15921385
Dia1 is required for the formation of the actin coat around endosomes downstream of RhoB, connecting membrane trafficking with the regulation of actin dynamics. PMID: 15944396
DIA1 and IQGAP1 interact in cell migration and phagocytic cup formation. PMID: 17620407
report of the clinical and molecular characteristics of 6 new patients with recessive hereditary methemoglobinemia due to cytochrome b5 reductase deficiency; two new mutations of DIA1, c. 82 C>T(Gln27STOP) and c. 136 C>T(Arg45Trp), were found PMID: 18343696
The decline in the activities of G6PD and b5Rm would indicate a decrease in the antioxidant response associated with RBC aging. PMID: 19811411
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相關疾病:
Methemoglobinemia CYB5R3-related (METHB-CYB5R3)
亞細胞定位:
[Isoform 1]: Endoplasmic reticulum membrane; Lipid-anchor; Cytoplasmic side. Mitochondrion outer membrane; Lipid-anchor; Cytoplasmic side.; [Isoform 2]: Cytoplasm. Note=Produces the soluble form found in erythrocytes.
蛋白家族:
Flavoprotein pyridine nucleotide cytochrome reductase family
組織特異性:
Isoform 2 is expressed at late stages of erythroid maturation.