ENSG00000132837
Homo sapiens | |
Features
| Gene ID: | ENSG00000132837 | | | | | Biological name : | DMGDH | | | | | Synonyms : | dimethylglycine dehydrogenase / DMGDH / Q9UI17 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 5 | | Strand: | -1 | | Band: | q14.1 | | Gene start: | 78997606 | | Gene end: | 79236038 | | | | | Corresponding Affymetrix probe sets: | 1559631_at (Human Genome U133 Plus 2.0 Array) 231591_at (Human Genome U133 Plus 2.0 Array) 231790_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000427834
Ensembl peptide - ENSP00000430972
Ensembl peptide - ENSP00000430133
Ensembl peptide - ENSP00000428995
Ensembl peptide - ENSP00000428092
Ensembl peptide - ENSP00000255189
NCBI entrez gene - 29958
See in Manteia.
OMIM - 605849
RefSeq - XM_006714597
RefSeq - XM_011543355
RefSeq - XM_011543354
RefSeq - NM_013391
RefSeq Peptide - NP_037523
swissprot - Q8TCC6
swissprot - Q9UI17
swissprot - E5RK15
swissprot - E5RG50
swissprot - E5RGI4
Ensembl - ENSG00000132837
| | | | | Related genetic diseases (OMIM): | 605850 - Dimethylglycine dehydrogenase deficiency, 605850 |
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed
Ortholog prediction (from Ensembl)
Paralog prediction (from Ensembl)
Protein motifs (from Interpro)
| IPR006076 | FAD dependent oxidoreductase | | IPR006222 | Aminomethyltransferase, folate-binding domain | | IPR013977 | Glycine cleavage T-protein, C-terminal barrel domain | | IPR029043 | Glycine cleavage T-protein/YgfZ, C-terminal | | IPR032503 | FAD dependent oxidoreductase, central domain | | IPR036188 | FAD/NAD(P)-binding domain superfamily |
Gene Ontology (GO)
Pathways (from Reactome)
Phenotype (from MGI, Zfin or HPO)
| HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
Show
| | HP:0003236 | Elevated serum creatine phosphokinase | |
Show
| | HP:0003750 | Muscle fatigue | "An abnormal, increased fatigability of the musculature." [HPO:curators] |
Show
| | HP:0012379 | Abnormal enzyme/coenzyme activity | "An altered ability of any enzyme or their cofactors to act as catalysts." [HPO:probinson, MP:0005584] |
Show
|
Interacting proteins (from Reactome)
No match
0 s.
|
