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: 166785
MIM: 607481
HGNC: 18871
Ensembl: ENSG00000151611
Variants:
dbSNP: 166785
ClinVar: 166785
TCGA: ENSG00000151611
COSMIC: MMAA
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 29996803 | 2018 | Mild clinical features of isolated methylmalonic acidemia associated with a novel variant in the MMAA gene in two Chinese siblings. | 4 |
| 29996803 | 2018 | Mild clinical features of isolated methylmalonic acidemia associated with a novel variant in the MMAA gene in two Chinese siblings. | 4 |
| 28943303 | 2017 | Human MMAA induces the release of inactive cofactor and restores methylmalonyl-CoA mutase activity through their complex formation. | 8 |
| 28943303 | 2017 | Human MMAA induces the release of inactive cofactor and restores methylmalonyl-CoA mutase activity through their complex formation. | 8 |
| 28536607 | 2016 | Identification of a novel deletion in the MMAA gene in two Iranian siblings with vitamin B12-responsive methylmalonic acidemia. | 5 |
| 28536607 | 2016 | Identification of a novel deletion in the MMAA gene in two Iranian siblings with vitamin B12-responsive methylmalonic acidemia. | 5 |
| 23026888 | 2012 | High resolution melting analysis of the MMAA gene in patients with cblA and in those with undiagnosed methylmalonic aciduria. | 14 |
| 23026888 | 2012 | High resolution melting analysis of the MMAA gene in patients with cblA and in those with undiagnosed methylmalonic aciduria. | 14 |
| 21138732 | 2011 | Protection and reactivation of human methylmalonyl-CoA mutase by MMAA protein. | 16 |
| 21138732 | 2011 | Protection and reactivation of human methylmalonyl-CoA mutase by MMAA protein. | 16 |
| 20876572 | 2010 | Structures of the human GTPase MMAA and vitamin B12-dependent methylmalonyl-CoA mutase and insight into their complex formation. | 53 |
| 20876572 | 2010 | Structures of the human GTPase MMAA and vitamin B12-dependent methylmalonyl-CoA mutase and insight into their complex formation. | 53 |
| 19371216 | 2009 | Spondylocostal dysostosis associated with methylmalonic aciduria. | 0 |
| 19371216 | 2009 | Spondylocostal dysostosis associated with methylmalonic aciduria. | 0 |
| 17957493 | 2008 | Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group. | 19 |
Citation
Dessen P
MMAA (metabolism of cobalamin associated A)
Atlas Genet Cytogenet Oncol Haematol. 2003-10-01
Online version: http://atlasgeneticsoncology.org/gene/41385/mmaa
