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Details of DMGDH gene in Homo sapiens
IDs |
Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
| DMGDH | --- | Q9UI17 | M2GD_HUMAN | 29958 | ENSG00000132837 | Dimethylglycine dehydrogenase, mitochondrial | SPROT |
Disease |
Disease |
OMIM id |
DMGDH deficiency (DMGDHD) [MIM:605850]: Disorder characterized by fish odor, muscle fatigue with increased serum creatine kinase. Biochemically it is characterized by an increase of N,N-dimethylglycine (DMG) in serum and urine. Note=The disease is caused by mutations affecting the gene represented in this entry. |
605850 |