Gene: DMGDH

Alternate names for this Gene: DMGDHD|ME2GLYDH

Gene 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.

Gene is located in Chromosome: 5

Location in Chromosome : 5q14.1

Description of this Gene: dimethylglycine dehydrogenase

Type of Gene: protein-coding

Gene: BHMT

Alternate names for this Gene: BHMT1|HEL-S-61p

Gene Summary: This gene encodes a cytosolic enzyme that catalyzes the conversion of betaine and homocysteine to dimethylglycine and methionine, respectively. Defects in this gene could lead to hyperhomocyst(e)inemia, but such a defect has not yet been observed.

Gene is located in Chromosome: 5

Location in Chromosome : 5q14.1

Description of this Gene: betaine--homocysteine S-methyltransferase

Type of Gene: protein-coding