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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 Glycerophospholipid biosynthesis and Glycine, serine and threonine 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 | IBA,IEA | 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 |
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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 |
|
|||
Norspermidine |
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56-18-8 |
|
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 33 32 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | DMGDH 33 32 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | DMGDH 33 32 |
|
OneToOne | |
rat (Rattus norvegicus) |
Mammalia | Dmgdh 32 |
|
||
mouse (Mus musculus) |
Mammalia | Dmgdh 17 33 32 |
|
||
platypus (Ornithorhynchus anatinus) |
Mammalia | DMGDH 33 |
|
OneToOne | |
oppossum (Monodelphis domestica) |
Mammalia | DMGDH 33 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | DMGDH 33 32 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | DMGDH 33 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | dmgdh 32 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | dmgdh 33 32 |
|
OneToOne | |
Dr.5571 32 |
|
||||
worm (Caenorhabditis elegans) |
Secernentea | Y37E3.17 33 34 32 |
|
OneToOne | |
Y106G6H.5 34 |
|
|
SNP ID | Clin | Chr 05 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs121908331 | pathogenic, likely-pathogenic, Dimethylglycine dehydrogenase deficiency, not provided, DMGDH deficiency (DMGDHD) [MIM:605850] | 79,055,859(-) | T/C | coding_sequence_variant, intron_variant, missense_variant | |
rs1805073 | benign, not specified, - | 79,030,927(-) | G/A/C | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
rs1805074 | benign, not specified, - | 79,028,529(-) | A/G | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
rs200216040 | uncertain-significance, Dimethylglycine dehydrogenase deficiency | 79,044,442(-) | G/A | coding_sequence_variant, intron_variant, non_coding_transcript_variant, stop_gained | |
rs745629468 | uncertain-significance, Dimethylglycine dehydrogenase deficiency | 79,026,492(-) | C/A/T | coding_sequence_variant, missense_variant, non_coding_transcript_variant |
Disorder | Aliases | PubMed IDs |
---|---|---|
dimethylglycine dehydrogenase deficiency |
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sarcosinemia |
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