| Tbio | Cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial |
This gene encodes a protein that catalyzes the final step in the conversion of vitamin B(12) into adenosylcobalamin (AdoCbl), a vitamin B12-containing coenzyme for methylmalonyl-CoA mutase. Mutations in the gene are the cause of vitamin B12-dependent methylmalonic aciduria linked to the cblB complementation group. Alternatively spliced transcript variants have been found. [provided by RefSeq, Apr 2011]
Comments
Property Summary
| NCBI Gene PubMed Count | 33 |
| Grant Count | 4 |
| R01 Count | 3 |
| Funding | $3,458,203.5 |
| PubMed Score | 60.12 |
| PubTator Score | 170.30 |
| Disease | log2 FC | p |
|---|---|---|
| pancreatic ductal adenocarcinoma liver m... | -1.476 | 0.015 |
| non primary Sjogren syndrome sicca | 1.200 | 0.027 |
| ovarian cancer | -2.000 | 0.000 |
| PMID | Text |
|---|---|
| 23707710 | MMAB mutations, including one novel nonsense mutation (c.12 C>A [p.C4X]), were identified in all members of the cblB cohort. |
| 21604717 | Pathogenicity of the human truncation mutant results from its inability to sequester AdoCbl for direct transfer to methylmalonyl-CoA mutase, resulting in holoenzyme formation. |
| 20972250 | Observational study of gene-disease association. (HuGE Navigator) |
| 20877624 | Observational study of gene-disease association. (HuGE Navigator) |
| 20571754 | Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) |
| 20556797 | c.584G>A, c.349-1G>C, and c.290G>A mutations affect the splicing process of ATR. |
| 20430392 | Observational study of gene-disease association. (HuGE Navigator) |
| 20160193 | Observational study of gene-disease association. (HuGE Navigator) |
| 20159775 | These data suggest MMAB is the most likely gene influencing high-density lipoprotein-cholesterol levels at MMAB-MVK locus. |
| 19625202 | Characterization of ligand-binding by MMAB provides insight into the mechanism of cobalamin adenosylation and the effect of patient mutations in the inherited disorder |
| More... |
| PMID | Year | Title |
|---|---|---|
| 25944712 | 2015 | N-terminome analysis of the human mitochondrial proteome. |
| 24951543 | 2014 | Meta-analysis of genome-wide association studies in multiethnic Asians identifies two loci for age-related nuclear cataract. |
| 24275569 | 2014 | An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. |
| 24097068 | 2013 | Discovery and refinement of loci associated with lipid levels. |
| 23707710 | High resolution melting analysis of the MMAB gene in cblB patients and in those with undiagnosed methylmalonic aciduria. | |
| 21604717 | 2011 | Loss of allostery and coenzyme B12 delivery by a pathogenic mutation in adenosyltransferase. |
| 21269460 | 2011 | Initial characterization of the human central proteome. |
| 20972250 | 2011 | Genetic loci associated with lipid concentrations and cardiovascular risk factors in the Korean population. |
| 20877624 | 2010 | Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. |
| 20864672 | 2010 | Genetic variants influencing circulating lipid levels and risk of coronary artery disease. |
| More... |
