HADHA
Sign in to saveAlso 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.
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].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
- Symbol
- HADHA
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 2:26,189,833-26,245,044
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Image
- Human chromosome 2 ideogram.svg
Show 5 more facts
- HomoloGene ID
- 152
- exact match
- identifiers.org/ncbigene/3030
- genomic end
- 26244672
- genomic start
- 26413504
- cytogenetic location
- 2p23.3
Sources (3)
via Wikidata · CC0
~3 min read
Article
7 sectionsContents
- Structure
- Function
- Clinical significance
- Interactions
- References
- Further reading
- External links
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.
==Structure==
Available in 11 languages
via Wikidata sitelinks · CC0