HADHA

GENE INFORMATION

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Gene name

HADHA (HGNC Symbol)

Synonyms

GBP, LCEH, LCHAD, MTPA

Description

Hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit (HGNC Symbol)

Entrez gene 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, Jul 2008]

Chromosome

2

Cytoband

p23.3

Chromosome location (bp)

26190635 - 26244726

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000084754 (version 78.38)

Entrez gene

3030

UniProt

P40939 (UniProt - Evidence at protein level)

neXtProt

NX_P40939

Antibodypedia

HADHA antibodies
 

PROTEIN VIEW

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HADHA-001
 
HADHA-004
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

HADHA-001 ENSP00000370023
ENST00000380649
P40939
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Show » Show » 763 83 No 0
HADHA-004 ENSP00000438039
ENST00000492433
H0YFD6
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Show » Show » 250 27.1 No 0