DMGDH
entrez
29958
canonical
uniprot
Q9UI17
canonical
ensembl
ENSG00000132837
resolver
ensp
ENSP00000255189
resolver
ensp
ENSP00000677295
resolver
ensp
ENSP00000677296
resolver
genesymbol
DMGDH
resolver
hgnc
HGNC:24475
resolver
uniprot
B2RBN0
resolver
uniprot
B3KQ84
resolver
uniprot
B4E1J9
resolver
uniprot_entry
B3KQ84_HUMAN
resolver
uniprot_entry
M2GD_HUMAN
resolver
uniprot_sec
B2RBN0
resolver
uniprot_sec
B4E1J9
resolver
amino_acid_sequence
MLRPGAQLLRGLLLRSCPLQGSPGRPRSVCGREGEEKPPLSAETQWKDRAETVIIGGGCVGVSLAYHLAKAGMKDVVLLEKSELTAGSTWHAAGLTTYFHPGINLKKIHYDSIKLYEKLEEETGQVVGFHQPGSIRLATTPVRVDEFKYQMTRTGWHATEQYLIEPEKIQEMFPLLNMNKVLAGLYNPGDGHIDPYSLTMALAAGARKCGALLKYPAPVTSLKARSDGTWDVETPQGSMRANRIVNAAGFWAREVGKMIGLEHPLIPVQHQYVVTSTISEVKALKRELPVLRDLEGSYYLRQERDGLLFGPYESQEKMKVQDSWVTNGVPPGFGKELFESDLDRIMEHIKAAMEMVPVLKKADIINVVNGPITYSPDILPMVGPHQGVRNYWVAIGFGYGIIHAGGVGKYLSDWILHGEPPFDLIELDPNRYGKWTTTQYTEAKARESYGFNNIVGYPKEERFAGRPTQRVSGLYQRLESKCSMGFHAGWEQPHWFYKPGQDTQYRPSFRRTNWFEPVGSEYKQVMQRVAVTDLSPFGKFNIKGQDSIRLLDHLFANVIPKVGFTNISHMLTPKGRVYAELTVSHQSPGEFLLITGSGSELHDLRWIEEEAVKGGYDVEIKNITDELGVLGVAGPQARKVLQKLTSEDLSDDVFKFLQTKSLKVSNIPVTAIRISYTGELGWELYHRREDSVALYDAIMNAGQEEGIDNFGTYAMNALRLEKAFRAWGLEMNCDTNPLEAGLEYFVKLNKPADFIGKQALKQIKAKGLKRRLVCLTLATDDVDPEGNESIWYNGKVVGNTTSGSYSYSIQKSLAFAYVPVQLSEVGQQVEVELLGKNYPAVIIQEPLVLTEPTRNRLQKKGGKDKT
uniprot
proteins
disease_involvement
DISEASE: 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. {ECO:0000269|PubMed:11231903, ECO:0000269|PubMed:27486859}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.5.8.4
uniprot
proteins
function
FUNCTION: Catalyzes the demethylation of N,N-dimethylglycine to sarcosine. Also has activity with sarcosine in vitro. {ECO:0000269|PubMed:27486859}.
uniprot
proteins
mass_dalton
96811
uniprot
proteins
pathway_participation
PATHWAY: Amine and polyamine degradation; betaine degradation; sarcosine from betaine: step 2/2.
uniprot
proteins
protein_family
GcvT family
uniprot
proteins
pubmed
10102904
uniprot
proteins
pubmed
10767172
uniprot
proteins
pubmed
11231903
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15372022
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25954742
uniprot
proteins
pubmed
27486859
uniprot
proteins
sequence_length
866
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion.
uniprot
proteins