Human Disease and Mouse Model Detail
|
Human Disease
|
Methylmalonic Aciduria and Homocystinuria, CblC Type
OMIM ID: 277400
|
|
Synonyms
|
Methylmalonic Acidemia and Homocystinuria, Cblc Type;
Methylmalonic Aciduria and Homocystinuria, Vitamin B12-Responsive;
Vitamin B12 Metabolic Defect with Combined Deficiency of Methylmalonyl-Coa Mutase and Homocysteine:methyltetrahydrofolate Methyltransferase
|
Genes and
mouse models
|
Mutations in human and/or mouse homologs are associated with this disease
| |
|
|
*Gene is associated with the disease in this species |
| |
|
|
 | | |
Mmachc
|
MMACHC*
|
|
1:1 Homology
|
|
Analysis Tools