This gene encodes a member of the aldehyde dehydrogenase protein family. The encoded protein is a mitochondrial methylmalonate semialdehyde dehydrogenase that plays a role in the valine and pyrimidine catabolic pathways. This protein catalyzes the irreversible oxidative decarboxylation of malonate and methylmalonate semialdehydes to acetyl- and propionyl-CoA. Methylmalonate semialdehyde dehydrogenase deficiency is characterized by elevated beta-alanine, 3-hydroxypropionic acid, and both isomers of 3-amino and 3-hydroxyisobutyric acids in urine organic acids. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]
Overall distribution
Tissue specific distribution
Overall distribution
Tissue specific distribution
Gscore (Amp):
0.00
Gscore (Del):
0.22
Recurrently deleted in 2 cancer type(s)
Overall distribution
Tissue specific distribution
Mscore:
0.02
Recurrently mutated in 1 cancer type(s)
Overall
Tissue specific
Total fusion occurrence:
NA
Overall
Tissue specific
Functional class:
Enzyme
JensenLab PubMed score:
15.57 (Percentile rank: 43.42%)
PubTator score:
9.10 (Percentile rank: 38.40%)
Target development/druggability level:
TbioThese targets do not have known drug or small molecule activities that satisfy the activity thresholds detailed below AND satisfy one or more of the following criteria: 1) target is above the cutoff criteria for Tdark; 2) target is annotated with a Gene Ontology Molecular Function or Biological Process leaf term(s) with an Experimental Evidence code.
Tractability (small molecule):
Predicted TractableTargets with a predicted Ro5 druggable domain (druggable genome); Targets with a drugEBIlity score equal or greater than 0
