Homo sapiens metabolism of cobalamin associated C (MMACHC), transcript - Nucleotide

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The MMACHC variant c.158T>C: Mild clinical and biochemical phenotypes and marked hydroxocobalamin response in cblC patients. [Mol Genet Metab. 2024]
The MMACHC variant c.158T>C: Mild clinical and biochemical phenotypes and marked hydroxocobalamin response in cblC patients.
Demaret T, Bédard K, Soucy JF, Watkins D, Allard P, Levtova A, O'Brien A, Brunel-Guitton C, Rosenblatt DS, Mitchell GA. Mol Genet Metab. 2024 May; 142(1):108345. Epub 2024 Feb 10.
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.

RefSeq alternative splicing
See the other reference mRNA sequence splice variant for the MMACHC gene (NM_001330540.2).
RefSeq protein product
See the reference protein sequence for cyanocobalamin reductase / alkylcobalamin dealkylase isoform 1 (NP_056321.2).

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Nucleotide