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Description for Protein HADHA

hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
9 total interacting proteins; 4 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 5/0)
(membrane: 1; microparticles: 1; platelet: 3)
Summary:
This gene encodes the alpha subunit of the mitochondrial trifunctional protein, which catalyzes the last three steps of mitochondrial beta-oxidation of long chain fatty acids. The mitochondrial membrane-bound heterocomplex is composed of four alpha and four beta subunits, with the alpha subunit catalyzing the 3-hydroxyacyl-CoA dehydrogenase and enoyl-CoA hydratase activities. Mutations in this gene result in trifunctional protein deficiency or LCHAD deficiency. The genes of the alpha and beta subunits of the mitochondrial trifunctional protein are located adjacent to each other in the human genome in a head-to-head orientation. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • CC: Coiled Coil
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    1.1.1.211; 4.2.1.17
    KEGG - Orthology:
    K07515
    KEGG - Pathway(s):
    hsa00062; hsa00071; hsa00280; hsa00310; hsa00380; hsa00410; hsa00640; hsa00650; hsa00903; hsa01040; hsa01100
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Hydroxyacyl CoA dehydrogenase/3 ketoacyl CoA; Thiolase/enoyl CoA hydratase, alpha subunit; Trifunctional protein, alpha subunit; MTPA; Long chain hydroxyacyl CoA dehydrogenase; LCHAD; Trifunctional enzyme alpha subunit, mitochondrial; TP alpha; Long chain enoyl CoA hydratase; HADH
    Approved Symbol:
    HADHA
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 3
    Human (de-) phosphorylation sites: 3; 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:

  • LChad deficiency(Pd);
  • Neuropathy-myopathy, progressive, due to trifunctional protein deficiency(Pd);
  • Trifunctional protein deficiency(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 02934 Entrez Gene ID: 3030 OMIM ID: 600890 Swissprot Accession: P40939;