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Details of MMACHC gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| MMACHC | --- | Q9Y4U1 | MMAC_HUMAN | 25974
| ENSG00000132763
| Methylmalonic aciduria and homocystinuria type C protein | SPROT |
Disease |
|---|
| Disease |
OMIM id |
| Methylmalonic aciduria and homocystinuria type cblC (MMAHCC) [MIM:277400]: A disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood. Note=The disease is caused by mutations affecting the gene represented in this entry. |
277400;603174 |
