RecName: Full=Cyanocobalamin reductase / alkylcobalamin dealkylase; Al - Protein

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Clinical and electroencephalogram characteristics of methylmalonic acidemia with MMACHC and MUT gene mutations. [BMC Pediatr. 2024]
Clinical and electroencephalogram characteristics of methylmalonic acidemia with MMACHC and MUT gene mutations.
Yuan Y, Ma Y, Wu Q, Huo L, Liu CF, Liu X. BMC Pediatr. 2024 Feb 14; 24(1):119. Epub 2024 Feb 14.
[Analysis of clinical phenotypes and MMACHC gene variants in 65 children with Methylmalonic acidemia and homocysteinemia]. [Zhonghua Yi Xue Yi Chuan Xue Z...]
[Analysis of clinical phenotypes and MMACHC gene variants in 65 children with Methylmalonic acidemia and homocysteinemia].
Chen C, Zhang Y, Ge L, Liu L, Zhang X, Mei S, Luo S. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Sep 10; 40(9):1086-1092.
[Factors affecting phenotypes in the patients with MMACHC gene c.609G>A homozygous variant cblC type methylmalonic acidemia combined with homocysteinuria]. [Zhonghua Yi Xue Yi Chuan Xue Z...]
[Factors affecting phenotypes in the patients with MMACHC gene c.609G>A homozygous variant cblC type methylmalonic acidemia combined with homocysteinuria].
He R, Mo R, Zhang Y, Shen M, Kang L, Chen Z, Liu Y, Song J, Zhang H, Yao H, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Jun 10; 39(6):565-570.

RefSeq genomic sequence
See the genomic reference sequence for the MMACHC gene (NG_013378.2).
RefSeq protein isoforms
See 2 reference sequence protein isoforms for the MMACHC gene.

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Q9Y4U1 [Domain Mapping of Disease Mut...]
Q9Y4U1
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
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Reactome [Reactome]
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reagent reviews [ExactAntigen/Labome]
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RecName: Full=Cyanocobalamin reductase / alkylcobalamin dealkylase; AltName: Ful...
RecName: Full=Cyanocobalamin reductase / alkylcobalamin dealkylase; AltName: Full=Alkylcobalamin:glutathione S-alkyltransferase; AltName: Full=CblC; AltName: Full=Cyanocobalamin reductase (cyanide-eliminating); AltName: Full=Methylmalonic aciduria and homocystinuria type C protein; Short=MMACHC
gi|85681045|sp|Q9Y4U1.3|MMAC_HUMAN

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