DMGDH
Gene Information
- Official Symbol: DMGDH
- Official Name: dimethylglycine dehydrogenase
- Aliases and Previous Symbols: N/A
- Entrez ID: 29958
- UniProt: Q9UI17
- Interactions: BioGRID
- PubMed articles: Open PubMed
- OMIM: Open OMIM
Function Summary
- Entrez Summary: This gene encodes an enzyme involved in the catabolism of choline, catalyzing the oxidative demethylation of dimethylglycine to form sarcosine. The enzyme is found as a monomer in the mitochondrial matrix, and uses flavin adenine dinucleotide and folate as cofactors. Mutation in this gene causes dimethylglycine dehydrogenase deficiency, characterized by a fishlike body odor, chronic muscle fatigue, and elevated levels of the muscle form of creatine kinase in serum. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013].
- UniProt Summary: Catalyzes the demethylation of N,N-dimethylglycine to sarcosine. Also has activity with sarcosine in vitro. {ECO:0000269|PubMed:27486859}.
CRISPR Data
Essentiality in NALM6
- Essentiality Rank: 18762
- Expression level (log2 read counts): 0.72
DMGDH Expression in NALM6 Cells: 0.72
