| Tbio | Cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial |
Adenosyltransferase involved in intracellular vitamin B12 metabolism. Generates adenosylcobalamin (AdoCbl) and directly delivers the cofactor to MUT in a transfer taht is stimulated by ATP-binding to MMAB and gated by MMAA.
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]
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 | Z-score | Confidence |
|---|---|---|---|
| Methylmalonic aciduria cblB type | 1 | 0.0 | 0.0 |
| Disease | Target Count |
|---|---|
| Depressive disorder | 409 |
| Disease | Target Count | P-value |
|---|---|---|
| ovarian cancer | 8520 | 6.6e-05 |
| pancreatic ductal adenocarcinoma liver metastasis | 1962 | 1.5e-02 |
| non primary Sjogren syndrome sicca | 891 | 2.7e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Methylmalonic acidemia | 37 | 6.406 | 3.2 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Vitamin B12 deficiency | 20 | 3.634 | 1.8 |
| Disease | Target Count |
|---|---|
| Methylmalonic Aciduria, Cblb Type | 1 |
| Porokeratosis, disseminated superficial actinic 1 | 2 |
| Disease | log2 FC | p |
|---|---|---|
| non primary Sjogren syndrome sicca | 1.200 | 2.7e-02 |
| ovarian cancer | -2.000 | 6.6e-05 |
| pancreatic ductal adenocarcinoma liver m... | -1.476 | 1.5e-02 |
