dimethylglycine dehydrogenase, mitochondrial (ME2GLYDH, DMGDH)

Function

• choline metabolism

N,N-dimethylglycine + acceptor + H2O
              <-->
sarcosine + formaldehyde + reduced acceptor

Cofactor: FAD, covalently linked

Structure

monomer

Compartment

mitochondria

Pathology

• defects in DMGDH are the cause of DMGDH deficiency

More general terms

• dehydrogenase
• mitochondrial protein

Additional terms

• dimethylglycine dehydrogenase deficiency (DMGDH deficiency, DMGDHD)

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=29958
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:29958
• OMIM: https://mirror.omim.org/entry/605849
• OMIM: https://mirror.omim.org/entry/605850
• UniProt: http://www.uniprot.org/uniprot/Q9UI17.html