Identity
HGNC
LOCATION
2p15
LOCUSID
ALIAS
DEE88,EIEE88,HEL-S-32,KAR,MDH-s,MDHA,MGC:1375,MOR2
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 4190
MIM: 154200
HGNC: 6970
Ensembl: ENSG00000014641
Variants:
dbSNP: 4190
ClinVar: 4190
TCGA: ENSG00000014641
COSMIC: MDH1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 31538237 | 2019 | MDH1 deficiency is a metabolic disorder of the malate-aspartate shuttle associated with early onset severe encephalopathy. | 22 |
| 31795176 | 2019 | Evaluation of Human Cerebrospinal Fluid Malate Dehydrogenase 1 as a Marker in Genetic Prion Disease Patients. | 5 |
| 31538237 | 2019 | MDH1 deficiency is a metabolic disorder of the malate-aspartate shuttle associated with early onset severe encephalopathy. | 22 |
| 31795176 | 2019 | Evaluation of Human Cerebrospinal Fluid Malate Dehydrogenase 1 as a Marker in Genetic Prion Disease Patients. | 5 |
| 29574159 | 2018 | miR-126-5p targets Malate Dehydrogenase 1 in non-small cell lung carcinomas. | 12 |
| 29574159 | 2018 | miR-126-5p targets Malate Dehydrogenase 1 in non-small cell lung carcinomas. | 12 |
| 28263970 | 2017 | Cytosolic malate dehydrogenase activity helps support glycolysis in actively proliferating cells and cancer. | 46 |
| 28263970 | 2017 | Cytosolic malate dehydrogenase activity helps support glycolysis in actively proliferating cells and cancer. | 46 |
| 27840030 | 2016 | Arginine Methylation of MDH1 by CARM1 Inhibits Glutamine Metabolism and Suppresses Pancreatic Cancer. | 87 |
| 27881739 | 2016 | The functional readthrough extension of malate dehydrogenase reveals a modification of the genetic code. | 28 |
| 27840030 | 2016 | Arginine Methylation of MDH1 by CARM1 Inhibits Glutamine Metabolism and Suppresses Pancreatic Cancer. | 87 |
| 27881739 | 2016 | The functional readthrough extension of malate dehydrogenase reveals a modification of the genetic code. | 28 |
| 22360420 | 2012 | Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration. | 24 |
| 22693256 | 2012 | Acetylation of malate dehydrogenase 1 promotes adipogenic differentiation via activating its enzymatic activity. | 42 |
| 22360420 | 2012 | Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration. | 24 |
Citation
Dessen P
MDH1 (malate dehydrogenase 1)
Atlas Genet Cytogenet Oncol Haematol. 2003-08-01
Online version: http://atlasgeneticsoncology.org/gene/41327/mdh1
