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
Disease | Target Count |
---|---|
Age-related cataract | 6 |
Methylmalonic aciduria cblB type | 1 |
Disease | Target Count | P-value |
---|---|---|
ovarian cancer | 8492 | 6.55631097637041E-5 |
pancreatic ductal adenocarcinoma liver metastasis | 1795 | 0.0153839376273141 |
non primary Sjogren syndrome sicca | 840 | 0.0265879720248885 |
Disease | Target Count | Z-score | Confidence |
---|---|---|---|
Methylmalonic acidemia | 39 | 6.308 | 3.2 |
Disease | Target Count | Z-score | Confidence |
---|---|---|---|
Vitamin B12 deficiency | 20 | 3.234 | 1.6 |
Disease | Target Count |
---|---|
Methylmalonic Aciduria, Cblb Type | 1 |
Porokeratosis, disseminated superficial actinic 1 | 2 |
Disease | Target Count |
---|---|
Methylmalonic aciduria type cblB | 1 |
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 |
Species | Source |
---|---|
Chimp | OMA EggNOG |
Macaque | OMA Inparanoid |
Mouse | OMA EggNOG Inparanoid |
Rat | OMA Inparanoid |
Dog | OMA EggNOG Inparanoid |
Cow | OMA EggNOG Inparanoid |
Pig | OMA EggNOG Inparanoid |
Opossum | OMA EggNOG Inparanoid |
Platypus | EggNOG Inparanoid |
C. elegans | OMA Inparanoid |
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... |