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.;
NCI Metathesaurus CUI : CL1920878;
GenBank Accession Number : D16480;
Origin ID : C201711;
UMLS CUI : C5890957;
OMIM relation
- Semantic type(s)
- gene_found_in_organism
- gene_in_chromosomal_location
- gene_is_element_in_pathway
- gene_plays_role_in_process
