aldehyde dehydrogenase 6 family, member A1 (methylmalonate-semialdehyde dehydrogenase, ALDH6A1, MMSDH)

Function

• role in valine & pyrimidine metabolism.
• binds fatty acyl-CoA

2-methyl-3-oxopropanoate + CoA + H2O + NAD+
            <-->
propanoyl-CoA + HCO3- + NADH

3-oxopropanoate + CoA + NAD+/NADP+
            <-->
acetyl-CoA + CO2 + NADH/NADPH

Structure

• homotetramer
• belongs to the aldehyde dehydrogenase family

Compartment

mitochondria

Pathology

• defects in ALDH6A1 are the cause of methylmalonate semialdehyde dehydrogenase deficiency

More general terms

• aldehyde dehydrogenase
• mitochondrial protein

Database

• UniProt: http://www.uniprot.org/uniprot/Q02252.html
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:4329
• OMIM: https://mirror.omim.org/entry/603178
• OMIM: https://mirror.omim.org/entry/603178
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=4329