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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]
DMGDH (Dimethylglycine Dehydrogenase) is a Protein Coding gene. Diseases associated with DMGDH include Dimethylglycine Dehydrogenase Deficiency and Sarcosinemia. Among its related pathways are Glycine, serine and threonine metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include electron transfer activity. An important paralog of this gene is SARDH.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003723 | RNA binding | HDA | 22658674 |
GO:0005515 | protein binding | IEA | -- |
GO:0009055 | electron transfer activity | NAS | 10767172 |
GO:0016491 | oxidoreductase activity | IEA,IBA | 21873635 |
GO:0047865 | dimethylglycine dehydrogenase activity | IBA,IMP | 11231903 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IBA | 21873635 |
GO:0005739 | mitochondrion | IDA | -- |
GO:0005759 | mitochondrial matrix | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Glycine, serine and threonine metabolism | ||
2 | Metabolism |
.40
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3 | Glycerophospholipid biosynthesis |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006579 | amino-acid betaine catabolic process | IEA | -- |
GO:0019695 | choline metabolic process | NAS | 10767172 |
GO:0022900 | electron transport chain | IEA | -- |
GO:0042426 | choline catabolic process | IMP,TAS | -- |
GO:0055114 | oxidation-reduction process | IEA | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
N1-acetylspermine |
|
25593-72-0 |
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|||
Norspermidine |
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56-18-8 |
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ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14a | · | 14b | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||||||||||||||||||||
SP4: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | DMGDH 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | DMGDH 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | DMGDH 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Dmgdh 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Dmgdh 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | DMGDH 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | DMGDH 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | DMGDH 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | DMGDH 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | dmgdh 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | dmgdh 30 31 |
|
OneToOne | |
Dr.5571 30 |
|
||||
Worm (Caenorhabditis elegans) |
Secernentea | Y37E3.17 30 31 32 |
|
OneToOne | |
Y106G6H.5 32 |
|
|
SNP ID | Clinical significance and condition | Chr 05 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
668664 | Likely Benign: not provided | 79,028,654(-) | C/T | INTRON_VARIANT | |
681469 | Likely Benign: not provided | 79,063,706(-) | A/G | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
682526 | Likely Benign: not provided | 79,028,663(-) | C/A | INTRON_VARIANT | |
726130 | Likely Benign: not provided | 78,998,219(-) | G/A | SYNONYMOUS_VARIANT | |
746214 | Likely Benign: not provided | 79,063,655(-) | C/G | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
dimethylglycine dehydrogenase deficiency |
|
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sarcosinemia |
|
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histidinemia |
|
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histidine metabolism disease |
|
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argininosuccinic aciduria |
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