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
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
rs1057516217 in
GAREM2;HADHA gene and
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
PMID 23430857 2012 Prevalence of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency in Estonia.
PMID 10518281 1999 Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: variable expressivity of maternal illness during pregnancy and unusual presentation with infantile cholestasis and hypocalcaemia.
PMID 15902556 2005 Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency.
PMID 9266371 1997 Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of two new mutations.
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 8770876 1996 Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Characterization and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial trifunctional protein alpha subunit gene.
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 20583174 2010 Paternal isodisomy of chromosome 2 as a cause of long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency.
PMID 7846063 1995 The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy.
PMID 26024122 2015 Patient-Specific Induced Pluripotent Stem Cell-Derived RPE Cells: Understanding the Pathogenesis of Retinopathy in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency.
PMID 8865274 1996 Maternal acute fatty liver of pregnancy associated with fetal trifunctional protein deficiency: molecular characterization of a novel maternal mutant allele.
PMID 27491397 2016 Characterization of Chorioretinopathy Associated with Mitochondrial Trifunctional Protein Disorders: Long-Term Follow-up of 21 Cases.
PMID 10352164 1999 A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women.
PMID 29519241 2018 Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening.
PMID 12442268 2002 Uniparental disomy of chromosome 2 resulting in lethal trifunctional protein deficiency due to homozygous alpha-subunit mutations.
PMID 11855930 2002 Early neonatal diagnosis of long-chain 3-hydroxyacyl coenzyme a dehydrogenase and mitochondrial trifunctional protein deficiencies.
PMID 12971428 2003 A case of mitochondrial trifunctional protein deficiency diagnosed by acylcarnitine profile and DNA analysis in a dried blood spot of a 4-day-old boy.
PMID 12237653 2002 Fetal genotypes and pregnancy outcomes in 35 families with mitochondrial trifunctional protein mutations.
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.
rs137852769 in
GAREM2;HADHA gene and
Multiple congenital anomalies
PMID 12838198 2003 Mitochondrial trifunctional protein deficiency: a severe fatty acid oxidation disorder with cardiac and neurologic involvement.
PMID 11773547 2002 Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patients.
PMID 27117294 2017 Diagnosis, Treatment, and Clinical Outcome of Patients with Mitochondrial Trifunctional Protein/Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency.
PMID 26676313 2016 Earlier diagnosis and strict diets improve the survival rate and clinical course of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
rs137852769 in
GAREM2;HADHA gene and
Trifunctional Protein Deficiency With Myopathy And Neuropathy
PMID 8770876 1996 Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Characterization and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial trifunctional protein alpha subunit gene.
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 15902556 2005 Biochemical, clinical and molecular findings in LCHAD and general 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 20583174 2010 Paternal isodisomy of chromosome 2 as a cause of long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency.
PMID 27491397 2016 Characterization of Chorioretinopathy Associated with Mitochondrial Trifunctional Protein Disorders: Long-Term Follow-up of 21 Cases.
PMID 8865274 1996 Maternal acute fatty liver of pregnancy associated with fetal trifunctional protein deficiency: molecular characterization of a novel maternal mutant allele.
PMID 11855930 2002 Early neonatal diagnosis of long-chain 3-hydroxyacyl coenzyme a dehydrogenase and mitochondrial trifunctional protein deficiencies.
PMID 12971428 2003 A case of mitochondrial trifunctional protein deficiency diagnosed by acylcarnitine profile and DNA analysis in a dried blood spot of a 4-day-old boy.
PMID 12442268 2002 Uniparental disomy of chromosome 2 resulting in lethal trifunctional protein deficiency due to homozygous alpha-subunit mutations.