Gene: HADHA

Alternate names for this Gene: ECHA|GBP|HADH|LCEH|LCHAD|MTPA|TP-ALPHA

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.

Gene is located in Chromosome: 2

Location in Chromosome : 2p23.3

Description of this Gene: hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha

Type of Gene: protein-coding

rs1057516417 in HADHA gene and Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency PMID 7738175 1995 Two alpha subunit donor splice site mutations cause human trifunctional protein deficiency.

PMID 21549624 2011 Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency.

PMID 22459206 2012 Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies.

PMID 21103935 2011 Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening.

PMID 10352164 1999 A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women.

PMID 10234607 1999 Dietary management of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD). A case report and survey.

PMID 7846063 1995 The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy.

PMID 7811722 1994 Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the alpha-subunit of the mitochondrial trifunctional protein.

PMID 9266371 1997 Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of two new mutations.

PMID 9739053 1998 Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation.

PMID 29268767 2017 Non-invasive test using palmitate in patients with suspected fatty acid oxidation defects: disease-specific acylcarnitine patterns can help to establish the diagnosis.

PMID 14630990 2004 General mitochondrial trifunctional protein (TFP) deficiency as a result of either alpha- or beta-subunit mutations exhibits similar phenotypes because mutations in either subunit alter TFP complex expression and subunit turnover.

PMID 14694500 2004 Peripheral neuropathy, episodic myoglobinuria, and respiratory failure in deficiency of the mitochondrial trifunctional protein.

PMID 23798014 2013 Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screening.

PMID 19852779 2009 Next generation sequence analysis for mitochondrial disorders.

PMID 20659813 2011 Outcome in six patients with mitochondrial trifunctional protein disorders identified by newborn screening.

PMID 15902556 2005 Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 23868323 2013 Mitochondrial trifunctional protein deficiency: a rare cause of adult-onset rhabdomyolysis.

PMID 27491397 2016 Characterization of Chorioretinopathy Associated with Mitochondrial Trifunctional Protein Disorders: Long-Term Follow-up of 21 Cases.

PMID 26109258 2016 Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrate.

rs1057516417 in HADHA gene and Trifunctional Protein Deficiency With Myopathy And Neuropathy PMID 21549624 2011 Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency.

PMID 21103935 2011 Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening.

PMID 7738175 1995 Two alpha subunit donor splice site mutations cause human trifunctional protein deficiency.

PMID 22459206 2012 Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies.

PMID 10352164 1999 A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women.

PMID 9739053 1998 Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation.

PMID 12809642 2003 Optimal dietary therapy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

PMID 26109258 2016 Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrate.

PMID 23868323 2013 Mitochondrial trifunctional protein deficiency: a rare cause of adult-onset rhabdomyolysis.

PMID 27491397 2016 Characterization of Chorioretinopathy Associated with Mitochondrial Trifunctional Protein Disorders: Long-Term Follow-up of 21 Cases.

PMID 19433283 2009 Mitochondrial trifunctional protein deficiency with recurrent rhabdomyolysis.

PMID 22065858 2012 Delineating the role of alterations in lipid metabolism to the pathogenesis of inherited skeletal and cardiac muscle disorders: Thematic Review Series: Genetics of Human Lipid Diseases.