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Description for Protein ALDH5A1

aldehyde dehydrogenase 5 family, member A1
2 total interacting proteins; 2 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 2/0)
(membrane: 1; platelet: 3)
Summary:
This protein belongs to the aldehyde dehydrogenase family of proteins. This gene encodes a mitochondrial NAD(+)-dependent succinic semialdehyde dehydrogenase. A deficiency of this enzyme, known as 4-hydroxybutyricaciduria, is a rare inborn error in the metabolism of the neurotransmitter 4-aminobutyric acid (GABA). In response to the defect, physiologic fluids from patients accumulate GHB, a compound with numerous neuromodulatory properties. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
1.2.1.24
KEGG - Orthology:
K00139
KEGG - Pathway(s):
hsa00250; hsa00650; hsa01100
(The yellow boxes represents platelet proteins)
Nomenclature / Alternative Names:
Aldehyde dehydrogenase 5A1; NAD(+)-dependent succinic semialdehyde dehydrogenase; Succinate semialdehyde dehydrogenase, mitochondrial [Precursor]; EC 1.2.1.24; Aldehyde dehydrogenase 5A1 precursor, isoform 1; Aldehyde dehydrogenase 5A1 precursor, isoform 2; SSDH; SSADH; Aldehyde dehydrogenase 5 family member A1; Mitochondrial Succinate Semialdehyde Dehydrogenase
Approved Symbol:
ALDH5A1
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 2
Human (de-) phosphorylation sites: 2; 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):

  • Chlormerodrin(db);
  • NADH(db);
  • Succinic acid(db)

    Associated Genetic Diseases:

    None Available
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 08361 Entrez Gene ID: 7915 OMIM ID: 610045 Swissprot Accession: Q546H9; Q8N3W6; P51649;