EC Number | Protein Variants | Comment | Organism |
---|---|---|---|
1.2.1.27 | P62S | missense mutation in a highly conserved amino acid of MSDH, patient has severe developmental delay associated with development of marked post-natal microcephaly, at 7 years static moderate learning difficulties and borderline microcephaly | Homo sapiens |
1.2.1.27 | S262Y | missense mutation in a highly conserved amino acid of MSDH, patient developed a febrile illness and died from a hepatoencephalopathy at 2 years of age | Homo sapiens |
EC Number | Organism | UniProt | Comment | Textmining |
---|---|---|---|---|
1.2.1.27 | Homo sapiens | Q02252 | - |
- |
EC Number | Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|---|
1.2.1.27 | methylmalonate semialdehyde + CoA + H2O + NAD+ | - |
Homo sapiens | propanoyl-CoA + HCO3- + NADH | - |
? |
EC Number | Synonyms | Comment | Organism |
---|---|---|---|
1.2.1.27 | Aldh6a1 | - |
Homo sapiens |
1.2.1.27 | methylmalonate semialdehyde dehydrogenase protein | - |
Homo sapiens |
1.2.1.27 | MSDH | - |
Homo sapiens |
EC Number | General Information | Comment | Organism |
---|---|---|---|
1.2.1.27 | malfunction | MSDH malfunction can be a reason for 3-hydroxyisobutyric aciduria, which is a disorder of valine metabolism | Homo sapiens |
1.2.1.27 | metabolism | MSDH enzyme is part of the catabolism pathway of L-valine | Homo sapiens |