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Description for Protein ALDH6A1

aldehyde dehydrogenase 6 family, member A1
No Interacting Proteins
Icon Book Platelet Evidence (proteome studies/others : 1/0)
(platelet: 1)
Summary:
This protein belongs to the aldehyde dehydrogenases family of proteins. This enzyme plays a role in the valine and pyrimidine catabolic pathways. The product of this gene, a mitochondrial methylmalonate semialdehyde dehydrogenase, 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. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • TM: Transmembrane domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    1.2.1.27
    KEGG - Orthology:
    K00140
    KEGG - Pathway(s):
    hsa00280; hsa00562; hsa00640; hsa01100
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    MMSDH; Aldehyde dehydrogenase 6 family, member A1; Methylmalonate semialdehyde dehydrogenase
    Approved Symbol:
    ALDH6A1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 0
    No human (de-) phosphorylation sites; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

  • NADH(db)

    Associated Genetic Diseases:

  • Methylmalonate semialdehyde dehydrogenase deficiency(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 1
    • Additional Identifiers:

    HPRD: 04416 Entrez Gene ID: 4329 OMIM ID: 603178 Swissprot Accession: Q02252;