DMGDH

GENE INFORMATION

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Gene name

DMGDH

Synonyms

Description

Dimethylglycine dehydrogenase (HGNC Symbol)

Entrez 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. [provided by RefSeq, Jul 2013]

Chromosome

5

Cytoband

q14.1

Chromosome location (bp)

78997606 - 79236038

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000132837 (version 78.38)

Entrez gene

29958

UniProt

Q9UI17 (UniProt - Evidence at protein level)

neXtProt

NX_Q9UI17

Antibodypedia

DMGDH antibodies
 

PROTEIN VIEW

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DMGDH-001
 
DMGDH-004
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

DMGDH-001 ENSP00000255189
ENST00000255189
Q9UI17
Show all »
Show » Show » 866 96.8 No 0
DMGDH-004 ENSP00000430972
ENST00000523732
Q8TCC6
Show all »
Show » Show » 613 69.3 No 0