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Tbio
ALDH6A1
Methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial

Protein Summary
Description
Plays a role in valine and pyrimidine metabolism. Binds fatty acyl-CoA. 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]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000350259
  • ENSP00000342564
  • ENSG00000119711
  • ENST00000553458
  • ENSP00000450436

Symbol
  • MMSDH
  • MMSDH
  • MMSADHA
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
transcription factor perturbation
0.97
histone modification site profile
0.9
disease perturbation
0.87
protein domain
0.85
virus perturbation
0.76


IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 37.74   (req: < 5)
Gene RIFs: 9   (req: <= 3)
Antibodies: 473   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 37.74   (req: >= 5)
Gene RIFs: 9   (req: > 3)
Antibodies: 473   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 10
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0