Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 25974
MIM: 609831
HGNC: 24525
Ensembl: ENSG00000132763
Variants:
dbSNP: 25974
ClinVar: 25974
TCGA: ENSG00000132763
COSMIC: MMACHC
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000132763 | ENST00000401061 | Q9Y4U1 |
| ENSG00000132763 | ENST00000616135 | A0A0C4DGU2 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38355526 | 2024 | Clinical and electroencephalogram characteristics of methylmalonic acidemia with MMACHC and MUT gene mutations. | 0 |
| 38387306 | 2024 | The MMACHC variant c.158T>C: Mild clinical and biochemical phenotypes and marked hydroxocobalamin response in cblC patients. | 0 |
| 38355526 | 2024 | Clinical and electroencephalogram characteristics of methylmalonic acidemia with MMACHC and MUT gene mutations. | 0 |
| 38387306 | 2024 | The MMACHC variant c.158T>C: Mild clinical and biochemical phenotypes and marked hydroxocobalamin response in cblC patients. | 0 |
| 37643953 | 2023 | [Analysis of clinical phenotypes and MMACHC gene variants in 65 children with Methylmalonic acidemia and homocysteinemia]. | 0 |
| 37643953 | 2023 | [Analysis of clinical phenotypes and MMACHC gene variants in 65 children with Methylmalonic acidemia and homocysteinemia]. | 0 |
| 35337623 | 2022 | Intracellular processing of vitamin B(12) by MMACHC (CblC). | 5 |
| 35440018 | 2022 | Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B(12). | 5 |
| 35618206 | 2022 | Investigation on a MMACHC mutant from cblC disease: The c.394C>T variant. | 1 |
| 35773756 | 2022 | [Factors affecting phenotypes in the patients with MMACHC gene c.609G>A homozygous variant cblC type methylmalonic acidemia combined with homocysteinuria]. | 1 |
| 35337623 | 2022 | Intracellular processing of vitamin B(12) by MMACHC (CblC). | 5 |
| 35440018 | 2022 | Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B(12). | 5 |
| 35618206 | 2022 | Investigation on a MMACHC mutant from cblC disease: The c.394C>T variant. | 1 |
| 35773756 | 2022 | [Factors affecting phenotypes in the patients with MMACHC gene c.609G>A homozygous variant cblC type methylmalonic acidemia combined with homocysteinuria]. | 1 |
| 33190793 | 2021 | Thiolatocobalamins repair the activity of pathogenic variants of the human cobalamin processing enzyme CblC. | 3 |
Citation
Dessen P
MMACHC (metabolism of cobalamin associated C)
Atlas Genet Cytogenet Oncol Haematol. 2009-05-01
Online version: http://atlasgeneticsoncology.org/gene/50922/mmachc
