| Tbio | Methylmalonic aciduria and homocystinuria type C protein |
Catalyzes the reductive dealkylation of cyanocobalamin to cob(II)alamin, using FAD or FMN as cofactor and NADPH as cosubstrate (PubMed:19700356, PubMed:21697092, PubMed:22642810). Can also catalyze the glutathione-dependent reductive demethylation of methylcobalamin, and, with much lower efficiency, the glutathione-dependent reductive demethylation of adenosylcobalamin (PubMed:19801555, PubMed:22642810, PubMed:25809485). Under anaerobic conditions cob(I)alamin is the first product; it is highly reactive and is converted to aquocob(II)alamin in the presence of oxygen (PubMed:19801555). Binds cyanocobalamin, adenosylcobalamin, methylcobalamin and other, related vitamin B12 derivatives (PubMed:21071249).
The exact function of the protein encoded by this gene is not known, however, its C-terminal region shows similarity to TonB, a bacterial protein involved in energy transduction for cobalamin (vitamin B12) uptake. Hence, it is postulated that this protein may have a role in the binding and intracellular trafficking of cobalamin. Mutations in this gene are associated with methylmalonic aciduria and homocystinuria type cblC. [provided by RefSeq, Oct 2009]
The exact function of the protein encoded by this gene is not known, however, its C-terminal region shows similarity to TonB, a bacterial protein involved in energy transduction for cobalamin (vitamin B12) uptake. Hence, it is postulated that this protein may have a role in the binding and intracellular trafficking of cobalamin. Mutations in this gene are associated with methylmalonic aciduria and homocystinuria type cblC. [provided by RefSeq, Oct 2009]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Methylmalonic acidemia with homocystinuria | 1 | 0.0 | 0.0 |
| Disease | Target Count | P-value |
|---|---|---|
| ovarian cancer | 8520 | 3.3e-05 |
| pancreatic ductal adenocarcinoma liver metastasis | 1962 | 1.8e-03 |
| lung cancer | 4740 | 6.4e-03 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Hyperhomocysteinemia | 37 | 3.896 | 1.9 |
| Vitamin B12 deficiency | 20 | 3.684 | 1.8 |
| Myofibrillar myopathy 4 | 4 | 3.277 | 1.6 |
| Disease | Target Count |
|---|---|
| Macular Dystrophy, Concentric Annular | 4 |
| Disease | log2 FC | p |
|---|---|---|
| lung cancer | 1.300 | 6.4e-03 |
| ovarian cancer | 1.100 | 3.3e-05 |
| pancreatic ductal adenocarcinoma liver m... | -1.079 | 1.8e-03 |
MEPKVAELKQKIEDTLCPFGFEVYPFQVAWYNELLPPAFHLPLPGPTLAFLVLSTPAMFDRALKPFLQSC 1 - 70 HLRMLTDPVDQCVAYHLGRVRESLPELQIEIIADYEVHPNRRPKILAQTAAHVAGAAYYYQRQDVEADPW 71 - 140 GNQRISGVCIHPRFGGWFAIRGVVLLPGIEVPDLPPRKPHDCVPTRADRIALLEGFNFHWRDWTYRDAVT 141 - 210 PQERYSEEQKAYFSTPPAQRLALLGLAQPSEKPSSPSPDLPFTTPAPKKPGNPSRARSWLSPRVSPPASP 211 - 280 GP 281 - 282 //
