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MMACHC (基因名), Methylmalonic aciduria and homocystinuria type C protein (蛋白名), MMAC_HUMAN.
产品名称:

Human MMACHC/ Methylmalonic aciduria and homocystinuria type C protein Recombinant Protein

货号:
-
商标:
EIAab®
监管等级:
别名:

CblC, Cyanocobalamin reductase (cyanide-eliminating)

序列号:
Q9Y4U1
来源:
E.coli
种属:
Human
标签:
His
纯度:
>90% by SDS-PAGE
浓度:
Reconstitution Dependent
形态:
Liquid
内毒素水平:
Please contact protein@eiaab.com The technician for more information.
应用:
存储缓冲液:
50mM NaH2PO4, 500mM NaCl Buffer with 500mM Imidazole, 10%glycerol(PH8.0)
存储:
Store at -20°C. (Avoid repeated freezing and thawing.)
研究领域:
-
Human MMACHC Protein
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Human MMACHC Protein
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产品说明书
说明书: 下载说明书
MSDS: MSDS


基因位点
Cytogenetic band: 1p34.1 by HGNC 1p34.1 by Entrez Gene 1p34.1 by Ensembl
MMACHC Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
基因位点
通用注释


亚单元:
Monomer in the absence of bound substrate (PubMed:21697092, PubMed:22642810). Homodimer; dimerization is triggered by binding to FMN or adenosylcobalamin (PubMed:22642810). Heterodimer with MMADHC (PubMed:21071249, PubMed:23415655, PubMed:26483544).


功能:
Catalyzes the reductive dealkylation of cyanocobalamin to cob(II)alamin, using FAD or FMN as cofactor and NADPH as cosubstrate (PubMed:19700356, PubMed:21697092, PubMed:22642810). Can also catalyze the glutathione-dependent reductive demethylation of methylcobalamin, and, with much lower efficiency, the glutathione-dependent reductive demethylation of adenosylcobalamin (PubMed:19801555, PubMed:22642810, PubMed:25809485). Under anaerobic conditions cob(I)alamin is the first product; it is highly reactive and is converted to aquocob(II)alamin in the presence of oxygen (PubMed:19801555). Binds cyanocobalamin, adenosylcobalamin, methylcobalamin and other, related vitamin B12 derivatives (PubMed:21071249).


亚细胞位置:
Cytoplasm


该产品尚未在任何出版物中被引用。

[1].
"Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type."

[2].
"Mechanism of vitamin B12-responsiveness in cblC methylmalonic aciduria with homocystinuria."

[3].
"A human vitamin B12 trafficking protein uses glutathione transferase activity for processing alkylcobalamins."

[4].
"Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations."

[5].
"Late-onset cobalamin-C disorder: a challenging diagnosis."

[6].
"Structural Insights into the MMACHC-MMADHC Protein Complex Involved in Vitamin B12 Trafficking."

[7].
"Subcellular location of MMACHC and MMADHC, two human proteins central to intracellular vitamin B(12) metabolism."

[8].
"The C-terminal domain of CblD interacts with CblC and influences intracellular cobalamin partitioning."

[9].
"Structure of MMACHC reveals an arginine-rich pocket and a domain-swapped dimer for its B12 processing function."

[10].
"Interaction between MMACHC and MMADHC, two human proteins participating in intracellular vitamin B?? metabolism."
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