Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol MDH1 contributors: mct - updated : 13-11-2020
HGNC name malate dehydrogenase 1, NAD (soluble)
HGNC id 6970
ASSOCIATED DISORDERS
corresponding disease(s) EIEE88
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --over  
in left ventricular cardiac muscle of dilated cardiomyopathy (DCM) patients
constitutional     --over  
in sporadic Creutzfeldt-Jakob disease (sCJD) patients
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
  • potential of MDH1 in combination with tau as an additional biomarker in sCJD improving diagnostic accuracy of tau markedly
  • Therapy target
    ANIMAL & CELL MODELS