ALDH6A1
Methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial
Protein Summary
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]
- ENST00000350259
- ENSP00000342564
- ENSG00000119711
- ENST00000553458
- ENSP00000450436
- MMSDH
- MMSDH
- MMSADHA
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 | ||
Protein Classes
IDG Development Level Summary
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)
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
Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions
Active Ligand: 0
Target has at least one approved drug - AND - satisfies the preceding conditions
Active Drug: 0