HADHA wt Allele

Preferred Label : HADHA wt Allele;

NCIt synonyms : TP-ALPHA; 3-Ketoacyl-Coenzyme A (CoA) Thiolase, Alpha Subunit Gene; HADH; Gastrin-Binding Protein Gene; Hydroxyacyl-Coenzyme A Dehydrogenase/3-Ketoacyl-Coenzyme A Thiolase/Enoyl-Coenzyme A Hydratase (Trifunctional Protein), Alpha Subunit Gene; Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase Gene; Mitochondrial Trifunctional Enzyme, Alpha Subunit Gene; Trifunctional Enzyme Subunit Alpha, Mitochondrial Gene; LCHAD; GBP; ECHA; Trifunctional Protein, Alpha Subunit Gene; MTPA; Hydroxyacyl-CoA Dehydrogenase Trifunctional Multienzyme Complex Subunit Alpha wt Allele; LCEH; Mitochondrial Long-Chain 2-Enoyl-Coenzyme A (CoA) Hydratase, Alpha Subunit Gene; 3-Oxoacyl-CoA Thiolase Gene; Long-Chain 2-Enoyl-CoA Hydratase Gene; Mitochondrial Long-Chain L-3-Hydroxyacyl-Coenzyme A (CoA) Dehydrogenase, Alpha Subunit Gene; Hydroxyacyl-CoA Dehydrogenase/3-Ketoacyl-CoA Thiolase/Enoyl-CoA Hydratase (Trifunctional Protein), Alpha Subunit Gene; Hydroxyacyl-CoA Dehydrogenase/3-Ketoacyl-CoA Thiolase/Enoyl-CoA Hydratase, Alpha Subunit Gene; Mitochondrial Trifunctional Protein, Alpha Subunit Gene; Mitochondrial Trifunctional Enzyme, Alpha Subunit;

NCIt definition : Human HADHA wild-type allele is located in the vicinity of 2p23.3 and is approximately 54 kb in length. This allele, which encodes trifunctional enzyme subunit alpha, mitochondrial protein, plays a role in the final steps of the mitochondrial beta-oxidation pathway. Mutation of the gene is associated with long-chain 3-hydroxyl-CoA dehydrogenase (LCHAD) deficiency and mitochondrial trifunctional protein deficiency 1.;

NCIt note : LCHAD deficiency in a fetus may be associated with severe maternal complications during pregnancy; including: acute fatty liver pregnancy (AFLP) syndrome, HELLP (hypertension or hemolysis, elevated liver enzymes and low platelets) syndrome and hyperemesis gravidum.;

GenBank Accession Number : D16480;

Details

Origin ID

C201711;

OMIM relation
- Hydroxyacyl-coa dehydrogenase/3-ketoacyl-coa thiolase/enoyl-coa hydratase, alpha subunit [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 2p23.3 [NCIt concept]
gene_is_element_in_pathway
- Beta-Alanine Metabolism Pathway [NCIt concept]
- Butanoate Metabolism Pathway [NCIt concept]
- Fatty Acid Biosynthesis Pathway [NCIt concept]
- Fatty Acid Elongation Pathway in Mitochondria [NCIt concept]
- Fatty Acid Metabolism Pathway [NCIt concept]
- Lysine Degradation Pathway [NCIt concept]
- Propanoate Metabolism Pathway [NCIt concept]
- Tryptophan Metabolism Pathway [NCIt concept]
- Valine, Leucine and Isoleucine Degradation Pathway [NCIt concept]
gene_plays_role_in_process
- Catabolic Process [NCIt concept]
- Fatty Acid Metabolism [NCIt concept]
- Oxidation [NCIt concept]
- Oxidation/Reduction [NCIt concept]

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