HADHA

Also known as hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit, ECHA, GBP, HADH, LCEH, LCHAD, MTPA, TP-ALPHA

Trifunctional enzyme subunit alpha, mitochondrial also known as hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit is a protein that in humans is encoded by the HADHA gene. Mutations in HADHA have been associated with trifunctional protein deficiency or long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.

In the Vinony graph

Within Vinony's link graph, HADHA is referenced by 80 other articles, and connects out to Q180686, Ensembl genome database project and 3-beta-hydroxy-delta5-steroid dehydrogenase.

It sits within the topics EC 1.1.1 and Genes on human chromosome 2.

Its subject is documented across 11 Wikipedia language editions.

Gene data

HADHA

Name: hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
Type: protein-coding
Position: 26,189,833–26,245,044 (−)
Aliases: ECHA, GBP, LCEH, LCHAD, MLCL AT, MTPA, TP-ALPHA
Ensembl: ENSG00000084754
RefSeq RNA: NM_000182.5
RefSeq protein: NP_000173.2

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, Jul 2008].