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Gene : DMGDH Homo sapiens

Name  ? dimethylglycine dehydrogenase Cytological Location  5q14.1
Brief Description  dimethylglycine dehydrogenase
Description  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]
  • synonyms:
  • ME2GLYDH,
  • AF111858,
  • HGNC:24475,
  • DMGDHD,
  • DMGDH,
  • NM_013391,
  • uc003kfs.5,
  • OTTHUMG00000108159
  • identifiers:
  • 29958,
  • ENSG00000132837,
  • DMGDH

Genome feature

Region: gene ? Length: 72111  
Location: 5:78997564-79069674 reverse strand Cyto location: 5q14.1


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SNPs

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Disease

1 Diseases

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3753 SN Ps

5 Cross References

19 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results