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]

  • Lipid metabolic process
  • Fatty acid metabolic process
  • Fatty acid beta-oxidation
  • Metabolic process
  • Response to insulin
  • Mitochondrial trifunctional protein deficiency
  • Long-chain 3-hydroxyacyl-coa dehydrogenase deficiency
  • 3-hydroxyacyl-coa dehydrogenase deficiency
  • Hellp syndrome
  • Acyl-coa dehydrogenase, medium-chain, deficiency
  • Dilated Cardiomyopathy
  • General Cardiomyopathy

Based on Ayass Bioscience, LLC Data Analysis

Gene Location

HM-VUS Prevalence

% 0.255362614913177

Ratio of samples with at least 1 High/Med VUS variant (Computed from Ayass Bioscience Samples)

High/Med VUS Variants

G=0.001229(309/251462,GnomAD_exome)
G=0.000796(100/125568,TOPMED)
G=0.001203(146/121410,ExAC)
G=0.00036(28/78700,PAGE_STUDY)
G=0.00182(57/31368,GnomAD)
G=0.00072(8/11176,ALFAProject)
G=0.0002(1/5008,1000G)
G=0.0067(30/4480,Estonian)
G=0.0018(7/3854,ALSPAC)
G=0.0011(4/3708,TWINSUK)
G=0.002(2/998,GoNL)
G=0.007(2/304,FINRISK)