Species: Hu, Mu, Rt
Applications: WB, IHC
Host: Rabbit Polyclonal
Species: Hu, Mu, Rt
Applications: WB
Host: Mouse Monoclonal
Species: Hu
Applications: WB, ELISA, IHC
Host: Rabbit Polyclonal
Species: Hu
Applications: WB
Species: Hu
Applications: PAGE
Species: Hu
Applications: AC
Species: Hu
Applications: AC
Description
MMADHC encodes a mitochondrial protein that is involved in an early step of vitamin B12 metabolism. Vitamin B12 (cobalamin) is essential for normal development and survival in humans. Mutations in this gene cause methylmalonic aciduria and homocystinuria type cblD (MMADHC), a disorder of cobalamin metabolism that is characterized by decreased levels of the coenzymes adenosylcobalamin and methylcobalamin. Pseudogenes have been identified on chromosomes 11 and X.
Bioinformatics
| Entrez |
Human
|
| Uniprot |
Human
Human
Human
Human
|
| Product By Gene ID |
27249 |
| Alternate Names |
- cblD
- chromosome 2 open reading frame 25
- methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
- mitochondrial
- protein C2orf25, mitochondrial
|
