Property Summary

NCBI Gene PubMed Count 68
PubMed Score 948.20
PubTator Score 205.17

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (11)

Disease log2 FC p
Rheumatoid Arthritis 1.500 1.2e-02
Multiple myeloma 1.289 1.4e-03
ependymoma 1.300 4.4e-03
oligodendroglioma 1.600 1.5e-03
osteosarcoma 1.685 5.4e-05
astrocytoma 1.100 3.1e-03
pancreatic ductal adenocarcinoma liver m... -1.712 1.9e-02
colon cancer -1.300 4.7e-04
aldosterone-producing adenoma -1.108 1.8e-02
ulcerative colitis -1.100 2.5e-06
ovarian cancer 1.500 1.0e-03

Gene RIF (38)

PMID Text
26367179 findings suggest an auxiliary role for HADHA in miRNA biogenesis and help in better understanding of molecular mechanisms underlying RNAi pathway
26109258 Exposure to bezafibrate (400 muM for 48 h) increased the abundance of HADHA and HADHB mRNAs.
25816318 nonstructural protein 5 (NS5) interacted with hydroxyacyl-CoA dehydrogenase alpha and beta subunits, two components of the mitochondrial trifunctional protein (MTP) involved in LCFA beta-oxidation
25673715 Mitochondrial Trifunctional-Protein depletion during hepatitis c virus infection rendered cells less responsive to alpha interferon treatment by impairing IFN-stimulated gene expression.
25478839 Crystal structures of human mitochondrial 3-ketoacyl-CoA thiolase (hT1) in the apo form and in complex with CoA have been determined at 2.0 A resolution. The structures confirm the tetrameric quaternary structure of this degradative thiolase.
24105666 revealed a novel G/A allelic change in the intronic region [chromosomal position 26417674; 20 bp adjacent to an already published SNP (rs151243950)] for one among the three acute fatty liver of pregnancy patients
23874603 A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of trifunctional protein, alpha subunit (HADHA) expression by HIV-1 Vpr in Vpr transduced macrophages
23253803 Free fatty acids might affect the expression of mitochondrial beta-oxidation enzyme of LCHAD in trophoblast cells.
23152787 mitochondrial alphaTFP exhibits both in vitro and in vivo MLCL AT activity linking an enzyme of mitochondrial beta-oxidation to Cardiolipin remodeling.
22746996 these findings lend support to the hypothesis that mutations in the HADHA gene may be directly associated with and potentially causative of Maternal floor infarction/massive perivillous fibrin deposition
22583932 TP-alpha, collagen alpha-1(VI) chain and S100A9 are potential biomarkers of esophageal squamous cell carcinoma, and may play an important role in tumorigenesis and development of ESCC.
22471497 High HADHA protein expression is associated with response to platinum-based chemotherapy for lung cancer.
22325456 Both children were homozygous for the common mutation c.1528G>C and the parents were heterozygous for this same mutation.
22190034 A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of trifunctional protein, alpha subunit (HADHA) expression by HIV-1 Vpr in Vpr transduced macrophages
21549624 Results emphasize the value of cDNA analysis in the characterization of HADHA and HADHB mutations and further strengthen the model of haploinsufficiency as a major pathomechanism in MTP defects.
20877624 Observational study of gene-disease association. (HuGE Navigator)
20825197 Recombinant mitochondrial trifunctional protein displayed 2-enoyl-CoA hydratase, l-3-hydroxyacyl-CoA dehydrogenase, and 3-ketoacyl-CoA thiolase activities.
20814823 Report probable Kashubian origin of the prevalent HADHA c.1528G>C mutation responsible for long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland.
20589231 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
20532202 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19737925 identify MLCL AT-1 as a human mitochondrial monolysocardiolipin acyltransferase involved in the remodeling of cardiolipin
19692168 Observational study of gene-disease association. (HuGE Navigator)
19625176 Observational study of gene-disease association. (HuGE Navigator)
19170196 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19064571 Observational study of gene-disease association. (HuGE Navigator)
18676680 Observational study of gene-disease association. (HuGE Navigator)
18485779 Severe cardiac mitochondrial proliferation and TFP deficiency was observed in intrauterine cardiomyopathy.
18045290 The second of 220 SIDs cases was a compound heterozygous for the prevalent MTP G1528C mutation and a novel 1 bp deletion in exon 18 of the MTPalpha-subunit gene.
18031367 There might be diverse etiological factors in China contributing to AFLP other than the frequently reported mutation in the LCHAD.
17313315 Observational study of gene-disease association. (HuGE Navigator)
17313315 Neither maternal nor fetal heterozygosity for the E474Q mutation is a relevant factor of HELLP syndrome.
17199921 Observational study of gene-disease association. (HuGE Navigator)
17143551 DNA analysis of patients 1 and 2 revealed homozygosity for a c.1689+2T>G mutation of the HADHA gene, resulting in the skipping of exon 16 with an in-frame 69-bp deletion.
15347768 The retinal pigment epithelium rather than the choriocapillaris could be the critical affected cell layer in LCHAD retinopathy
14630990 Both alpha- and beta-subunit mutations result in TFP complex instability, demonstrating that the mechanism of disease is the same in alpha- or beta-mutation-derived disease and explaining the biochemical and clinical similarities.
12971430 Plasma concentration varied more than erythrocyte levels. Postprandial period and fasting.
12413376 Observational study of gene-disease association. (HuGE Navigator)
11978893 The G1528C (E474Q) mutation in the alpha-subunit of the mitochondrial trifunctional protein was not found in 10 women with acute fatty liver of pregnancy.

AA Sequence

MVACRAIGILSRFSAFRILRSRGYICRNFTGSSALLTRTHINYGVKGDVAVVRINSPNSKVNTLSKELHS      1 - 70
EFSEVMNEIWASDQIRSAVLISSKPGCFIAGADINMLAACKTLQEVTQLSQEAQRIVEKLEKSTKPIVAA     71 - 140
INGSCLGGGLEVAISCQYRIATKDRKTVLGTPEVLLGALPGAGGTQRLPKMVGVPAALDMMLTGRSIRAD    141 - 210
RAKKMGLVDQLVEPLGPGLKPPEERTIEYLEEVAITFAKGLADKKISPKRDKGLVEKLTAYAMTIPFVRQ    211 - 280
QVYKKVEEKVRKQTKGLYPAPLKIIDVVKTGIEQGSDAGYLCESQKFGELVMTKESKALMGLYHGQVLCK    281 - 350
KNKFGAPQKDVKHLAILGAGLMGAGIAQVSVDKGLKTILKDATLTALDRGQQQVFKGLNDKVKKKALTSF    351 - 420
ERDSIFSNLTGQLDYQGFEKADMVIEAVFEDLSLKHRVLKEVEAVIPDHCIFASNTSALPISEIAAVSKR    421 - 490
PEKVIGMHYFSPVDKMQLLEIITTEKTSKDTSASAVAVGLKQGKVIIVVKDGPGFYTTRCLAPMMSEVIR    491 - 560
ILQEGVDPKKLDSLTTSFGFPVGAATLVDEVGVDVAKHVAEDLGKVFGERFGGGNPELLTQMVSKGFLGR    561 - 630
KSGKGFYIYQEGVKRKDLNSDMDSILASLKLPPKSEVSSDEDIQFRLVTRFVNEAVMCLQEGILATPAEG    631 - 700
DIGAVFGLGFPPCLGGPFRFVDLYGAQKIVDRLKKYEAAYGKQFTPCQLLADHANSPNKKFYQ           701 - 763
//

Text Mined References (75)

PMID Year Title
26367179 2015 Association of HADHA with human RNA silencing machinery.
26109258 2016 Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrate.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25816318 2015 Japanese encephalitis virus nonstructural protein NS5 interacts with mitochondrial trifunctional protein and impairs fatty acid ?-oxidation.
25673715 2015 Hepatitis C virus attenuates mitochondrial lipid ?-oxidation by downregulating mitochondrial trifunctional-protein expression.
25478839 2014 The crystal structure of human mitochondrial 3-ketoacyl-CoA thiolase (T1): insight into the reaction mechanism of its thiolase and thioesterase activities.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24105666 2014 Absence of G1528C mutation in long-chain 3-hydroxyacyl-CoA dehydrogenase in four Indian patients with pregnancy-related liver disease.
23979707 2013 SILAC-based proteomics of human primary endothelial cell morphogenesis unveils tumor angiogenic markers.
23253803 2012 [Effects of expression of mitochondria long-chain fatty acid oxidative enzyme with different chain lengths of free fatty acids in trophoblast cells].
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23152787 2012 Human trifunctional protein alpha links cardiolipin remodeling to beta-oxidation.
22746996 Mutations in long-chain 3-hydroxyacyl coenzyme a dehydrogenase are associated with placental maternal floor infarction/massive perivillous fibrin deposition.
22583932 2012 Identification of the up-regulation of TP-alpha, collagen alpha-1(VI) chain, and S100A9 in esophageal squamous cell carcinoma by a proteomic method.
22471497 2011 HADHA is a potential predictor of response to platinum-based chemotherapy for lung cancer.
22325456 2012 [Acute fatty liver in pregnancy: revealing fetal fatty acid oxidation disorders].
22000755 2011 A patient with mitochondrial trifunctional protein deficiency due to the mutations in the HADHB gene showed recurrent myalgia since early childhood and was diagnosed in adolescence.
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.
21269460 2011 Initial characterization of the human central proteome.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20833797 2011 Phosphoproteome analysis of functional mitochondria isolated from resting human muscle reveals extensive phosphorylation of inner membrane protein complexes and enzymes.
20825197 2010 Structural and functional characterization of the recombinant human mitochondrial trifunctional protein.
20814823 2010 A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland.
20736409 2010 Systematic mapping and functional analysis of a family of human epididymal secretory sperm-located proteins.
20589231 2009 EFFECT OF FEEDING, EXERCISE AND GENOTYPE ON PLASMA 3-HYDROXYACYLCARNITINES IN CHILDREN WITH LCHAD DEFICIENCY.
20562859 2010 Network organization of the human autophagy system.
20532202 2010 Use of genome-wide expression data to mine the "Gray Zone" of GWA studies leads to novel candidate obesity genes.
19737925 2009 Identification of the human mitochondrial linoleoyl-coenzyme A monolysocardiolipin acyltransferase (MLCL AT-1).
19692168 2010 Genetic susceptibility to distinct bladder cancer subphenotypes.
19625176 2009 PTEN identified as important risk factor of chronic obstructive pulmonary disease.
19608861 2009 Lysine acetylation targets protein complexes and co-regulates major cellular functions.
19170196 2009 Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China.
19064571 2008 Polymorphisms in mitochondrial genes and prostate cancer risk.
18676680 2008 Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway.
18485779 2008 Intrauterine cardiomyopathy and cardiac mitochondrial proliferation in mitochondrial trifunctional protein (TFP) deficiency.
18063578 2008 The layered structure of human mitochondrial DNA nucleoids.
18045290 2007 Post-mortem analysis for two prevalent beta-oxidation mutations in sudden infant death.
18031367 2007 No mutation was found in the alpha-subunit of the mitochondrial tri-functional protein in one patient with severe acute fatty liver of pregnancy and her relatives.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17353931 2007 Large-scale mapping of human protein-protein interactions by mass spectrometry.
17313315 2007 Neither maternal nor fetal mutation (E474Q) in the alpha-subunit of the trifunctional protein is frequent in pregnancies complicated by HELLP syndrome.
17199921 2006 [Screening for G1528C mutation in mitochondrial trifunctional protein gene in pregnant women with severe preeclampsia and new born infant].
17143551 2007 Identification of novel mutations of the HADHA and HADHB genes in patients with mitochondrial trifunctional protein deficiency.
17081983 2006 Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
16176262 2005 3-Hydroxyacyl-CoA dehydrogenase and short chain 3-hydroxyacyl-CoA dehydrogenase in human health and disease.
15952740 Protein profiling of human pancreatic islets by two-dimensional gel electrophoresis and mass spectrometry.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15347768 2004 Mitochondrial fatty acid beta-oxidation in the human eye and brain: implications for the retinopathy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
15146197 2004 Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation.
14743216 2004 A physical and functional map of the human TNF-alpha/NF-kappa B signal transduction pathway.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
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.
12971430 2003 Plasma and erythrocyte fatty acid concentrations in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
12754706 2003 Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12413376 2002 Prospective screening for pediatric mitochondrial trifunctional protein defects in pregnancies complicated by liver disease.
12118083 2002 Long-chain L-3-hydroxyacyl-coenzyme a dehydrogenase deficiency: a molecular and biochemical review.
11978893 2002 Absence of the G1528C (E474Q) mutation in the alpha-subunit of the mitochondrial trifunctional protein in women with acute fatty liver of pregnancy.
10075708 1999 Genes for the human mitochondrial trifunctional protein alpha- and beta-subunits are divergently transcribed from a common promoter region.
9739053 1998 Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation.
9605857 1997 Fluorescence in situ hybridization mapping of the alpha and beta subunits (HADHA and HADHB) of human mitochondrial fatty acid beta-oxidation multienzyme complex to 2p23 and their evolution.
9266371 1997 Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of two new mutations.
9003853 1997 Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency with the G1528C mutation: clinical presentation of thirteen patients.
8921383 1996 The genes for the alpha and beta subunits of the mitochondrial trifunctional protein are both located in the same region of human chromosome 2p23.
8865274 1996 Maternal acute fatty liver of pregnancy associated with fetal trifunctional protein deficiency: molecular characterization of a novel maternal mutant allele.
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.
8163672 1994 Mitochondrial trifunctional protein deficiency. Catalytic heterogeneity of the mutant enzyme in two patients.
8135828 1994 Structural analysis of cDNAs for subunits of human mitochondrial fatty acid beta-oxidation trifunctional protein.
7958339 1994 The mitochondrial long-chain trifunctional enzyme: 2-enoyl-CoA hydratase, 3-hydroxyacyl-CoA dehydrogenase and 3-oxoacyl-CoA thiolase.
7918661 1994 Structures of the human cDNA and gene encoding the 78 kDa gastrin-binding protein and of a related pseudogene.
7846063 1995 The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy.
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.
7738175 1995 Two alpha subunit donor splice site mutations cause human trifunctional protein deficiency.
1550553 1992 Human liver long-chain 3-hydroxyacyl-coenzyme A dehydrogenase is a multifunctional membrane-bound beta-oxidation enzyme of mitochondria.