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Description for Protein ALDH4A1

aldehyde dehydrogenase 4 family, member A1
No Interacting Proteins
Icon Book Platelet Evidence (proteome studies/others : 2/0)
(platelet: 7)
Summary:
This protein belongs to the aldehyde dehydrogenase family of proteins. This enzyme is a mitochondrial matrix NAD-dependent dehydrogenase which catalyzes the second step of the proline degradation pathway, converting pyrroline-5-carboxylate to glutamate. Deficiency of this enzyme is associated with type II hyperprolinemia, an autosomal recessive disorder characterized by accumulation of delta-1-pyrroline-5-carboxylate (P5C) and proline. Alternatively spliced transcript variants encoding different 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):
1.5.1.12
KEGG - Orthology:
K00294
KEGG - Pathway(s):
hsa00250; hsa00330; hsa01100
(The yellow boxes represents platelet proteins)
Nomenclature / Alternative Names:
P5CDhS; P5CDhL; Aldehyde dehydrogenase 4A1 precursor; EC 1.5.1.12; Aldehyde dehydrogenase, family 4, subfamily a, member 1; ALDH4; P5CDH; P5CD
Approved Symbol:
ALDH4A1
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 1
Human (de-) phosphorylation sites: 1; 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:

  • Hyperprolinemia, type II(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 06009 Entrez Gene ID: 8659 OMIM ID: 606811 Swissprot Accession: P30038; B4DGE4;