2. Gene
  3. Aldh6a1 - aldehyde dehydrogenase family 6, subfamily A1 Gene

Aldh6a1 - aldehyde dehydrogenase family 6, subfamily A1 Gene

  • Gene
  • Protein
  • Agent
  • Ortholog
Mus musculus

Also known as Mmsdh; 1110038I05Rik

Gene ID: 104776 | Gene type: protein coding

About Aldh6a1

Summary

This gene encodes a member of the aldehyde dehydrogenase protein family. The encoded enzyme is a mitochondrial methylmalonate semialdehyde dehydrogenase that plays a role in the valine and pyrimidine catabolic pathways. This enzyme catalyzes the irreversible oxidative decarboxylation of malonate and methylmalonate semialdehydes to acetyl- and propionyl-CoA. Mutations in the human gene result in Methylmalonate Semialdehyde Dehydrogenase Deficiency, 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 encoding different isoforms. [provided by RefSeq, Sep 2015]

Aldh6a1 Products(2)

mRNA Protein Name
NM_001313967.1 NP_001300896.1 methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial isoform 2
NM_134042.3 NP_598803.1 methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial isoform 1 precursor
Gene Ontology
  • Biological Process
Biological Process GO Annotation Evidence Reference Source
acts upstream of or within brown fat cell differentiation IDA
IDA: Inferred from direct assay
18492766 MGI
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial

aldehyde dehydrogenase family 6 member A1

malonate-semialdehyde dehydrogenase

Related Agents

Pre-clinical Phase
Bioactive Molecules (2)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS00579 ALDH6A1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS28500 Aldh6a1 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Homo sapiens Aldh6a1 NCBI NCBI:4329