| URN | urn:agi-llid:29958 |
|---|---|
| Connectivity | 10 |
| Name | Dmgdh |
| Description | dimethylglycine dehydrogenase |
| Notes | 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. [provided by RefSeq] |
| Pathway | folate cycle metabolic pathway |
|---|
| GO Molecular Function | electron carrier activity |
|---|---|
| oxidoreductase activity | |
| folic acid binding | |
| FAD binding | |
| aminomethyltransferase activity | |
| dimethylglycine dehydrogenase activity |
| GO Cellular Component | cytoplasm |
|---|---|
| mitochondrion | |
| mitochondrial matrix |
| GO Biological Process | oxidation reduction |
|---|---|
| glycine catabolic process | |
| glycine metabolic process | |
| choline catabolic process | |
| choline metabolic process |
| Ariadne Ontology | Ser-Gly metabolism |
|---|
| Group | Ser-Gly metabolism |
|---|---|
| electron carrier activity | |
| oxidation reduction | |
| glycine catabolic process | |
| glycine metabolic process | |
| choline catabolic process | |
| choline metabolic process | |
| oxidoreductase activity | |
| folic acid binding | |
| FAD binding | |
| aminomethyltransferase activity | |
| dimethylglycine dehydrogenase activity | |
| cytoplasm | |
| mitochondrion | |
| mitochondrial matrix |
| MedScan ID | 29958 |
|---|
| Hugo ID | 24475 |
|---|
| Human chromosome position | 5q14.1 |
|---|
| LocusLink ID | 29958 |
|---|---|
| 74129 | |
| 245961 |
| Alias | DMGDHD |
|---|---|
| ME2GLYDH | |
| dimethylglycine dehydrogenase, mitochondrial | |
| AI787269 | |
| MGC107623 | |
| 1200014D15Rik | |
| RP23-97B15.1 | |
| OTTMUSP00000029163 | |
| 1200014D15 | |
| dimethylglycine dehydrogenase | |
| dimethylglycine dehydrogenases | |
| DMGDH | |
| LOC360332 | |
| N,N-dimethylglycine oxidase | |
| N,N-dimethylglycine oxidases |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 605849 |
|---|---|
| 605850 |
| Mouse chromosome position | 13 |
|---|
| GO ID | 0050660 |
|---|---|
| 0004047 | |
| 0047865 | |
| 0009055 | |
| 0005542 | |
| 0016491 | |
| 0019695 | |
| 0006546 | |
| 0006544 | |
| 0055114 | |
| 0005737 | |
| 0005759 | |
| 0005739 | |
| 0042426 |
| Rat chromosome position | 2q12 |
|---|
| Swiss-Prot Accession | B3KQ84 |
|---|---|
| Q9UI17 | |
| Q8TCC6 | |
| Q9DBT9 | |
| Q5EBH4 | |
| Q5RKL4 | |
| Q63342 | |
| B1B1D0 | |
| Q8R1S7 |
| Unigene ID | Hs.655653 |
|---|---|
| Mm.21789 | |
| Rn.3646 |
| KEGG ID | hsa:29958 |
|---|---|
| mmu:74129 | |
| rno:245961 |
| EC Number | 1.5.99.2 |
|---|
| Swiss-Prot ID | M2GD_HUMAN |
|---|---|
| M2GD_MOUSE | |
| B3KQ84_HUMAN | |
| Q5RKL4_RAT | |
| B1B1D0_MOUSE |
| Cell Localization | Mitochondrion |
|---|---|
| Cytoplasm |
| IPI ID | IPI00296196 |
|---|---|
| IPI00120123 | |
| IPI00515762 | |
| IPI00178676 | |
| IPI00207941 |
| Homologene ID | 8372 |
|---|
| RGD ID | 620453 |
|---|
| MGI ID | 1921379 |
|---|