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
Gene: GAREM2
Alternate names for this Gene: FAM59B|GAREML
Gene Summary:
Gene is located in Chromosome: 2
Location in Chromosome : 2p23.3
Description of this Gene: GRB2 associated regulator of MAPK1 subtype 2
Type of Gene: protein-coding
rs779113356 in
HADHA;GAREM2 gene and
Long chain 3-hydroxyacyl-CoA dehydrogenase 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.
rs1167218743 in
HADHA;GAREM2 gene and
Trifunctional Protein Deficiency With Myopathy And Neuropathy
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 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 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 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.