Property Summary

NCBI Gene PubMed Count 36
PubMed Score 275.67
PubTator Score 91.75

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (15)

Disease log2 FC p
Waldenstrons macroglobulinemia 1.206 3.1e-02
Multiple myeloma 1.230 1.9e-03
astrocytoma 1.200 3.3e-02
acute quadriplegic myopathy -1.001 2.6e-05
pancreatic ductal adenocarcinoma liver m... -2.310 7.5e-04
colon cancer -1.300 8.7e-03
ulcerative colitis -1.400 2.5e-05
interstitial cystitis -1.400 1.5e-05
posterior fossa group B ependymoma 1.300 2.4e-07
sonic hedgehog group medulloblastoma 1.200 4.8e-07
lung adenocarcinoma 1.067 6.9e-03
ductal carcinoma in situ -1.500 5.6e-04
invasive ductal carcinoma -1.400 3.4e-03
acute myeloid leukemia -1.100 9.2e-03
ovarian cancer 1.400 1.6e-03

Gene RIF (17)

PMID Text
26361074 Paretic muscle in hemiparetic stroke survivors had lower HAD concentration.
26316438 We present clinical and laboratory findings together with the long-term clinical course of a case with a deep intronic HADH splicing mutation (c.636+471G>T) causing neonatal-onset hyperinsulinemic hypoglycemia with mild progression
26268944 in a cohort of hyperinsulinemic hypoglycemia patients from Isfahan, Iran, 78% were noted to have disease-causing mutations: 48% had HADH mutations and 26% had ABCC8 mutations.
23842279 HIV-1 Vpr regulates mitochondrial respiration and enhances the activity of hydroxyacyl-CoA dehydrogenase (HADH) through PPARbeta/delta
23273570 Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation.
22583614 Loss of function mutations in 3-Hydroxyacyl-CoA Dehydrogenase (HADH) cause leucine sensitive hyperinsulinaemic hypoglycaemia.
21347589 Clinical, biochemical and molecular findings of four new Caucasian patients with HADH deficiency.
21252247 We recommend that HADH sequence analysis is considered in all patients with diazoxide-responsive hyperinsulinemic hypoglycemia when recessive inheritance is suspected
20931292 Congenital hyperinsulinism due to mutations in HNF4A and HADH.
20877624 Observational study of gene-disease association. (HuGE Navigator)
20332099 Observational study of gene-disease association. (HuGE Navigator)
19318379 This case indicates that mutations of the HADH gene should be sought in hyperinsulinemic patients in whom diffuse form of hyperinsulinemic hypoglycemia.
17065362 Observational study of gene-disease association. (HuGE Navigator)
17065362 Unlikely that variation in HADHSC plays a major role in the pathogenesis of type 2 diabetes in the examined cohorts.
14693719 SCHAD deficiency can result in persistent hyperinsulinemic hypoglycemia of infancy
11451959 To investigate its function in this catalytic dyad, Glu(170) was replaced with glutamine (E170Q), and the mutant enzyme was characterized. Substrate and cofactor binding were unaffected by the mutation; E170Q exhibited diminished catalytic activity
9185222 Patients with the G1528C mutation of 3-hyroxyacyl-CoA dehydrogenase exhibit hepatomegaly and steatosis of the liver, as well as accumulation of fat in the myocardium, renal tubules, and skeletal muscle

AA Sequence

MAFVTRQFMRSVSSSSTASASAKKIIVKHVTVIGGGLMGAGIAQVAAATGHTVVLVDQTEDILAKSKKGI      1 - 70
EESLRKVAKKKFAENLKAGDEFVEKTLSTIATSTDAASVVHSTDLVVEAIVENLKVKNELFKRLDKFAAE     71 - 140
HTIFASNTSSLQITSIANATTRQDRFAGLHFFNPVPVMKLVEVIKTPMTSQKTFESLVDFSKALGKHPVS    141 - 210
CKDTPGFIVNRLLVPYLMEAIRLYERGDASKEDIDTAMKLGAGYPMGPFELLDYVGLDTTKFIVDGWHEM    211 - 280
DAENPLHQPSPSLNKLVAENKFGKKTGEGFYKYK                                        281 - 314
//

Text Mined References (40)

PMID Year Title
26361074 2016 Skeletal muscle fiber characteristics and oxidative capacity in hemiparetic stroke survivors.
26316438 2015 A Deep Intronic HADH Splicing Mutation (c.636+471G>T) in a Congenital Hyperinsulinemic Hypoglycemia Case: Long Term Clinical Course.
26268944 2015 Genotype and phenotype correlations in Iranian patients with hyperinsulinaemic hypoglycaemia.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
24529757 2014 Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23273570 2013 Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation.
22583614 2012 Leucine-sensitive hyperinsulinaemic hypoglycaemia in patients with loss of function mutations in 3-Hydroxyacyl-CoA Dehydrogenase.
22271489 2013 Changes of the HSD17B10 gene expression levels in ulcerative colitis.
21347589 2011 Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases.
21269460 2011 Initial characterization of the human central proteome.
21252247 2011 Genome-wide homozygosity analysis reveals HADH mutations as a common cause of diazoxide-responsive hyperinsulinemic-hypoglycemia in consanguineous pedigrees.
20931292 2010 Congenital hyperinsulinism due to mutations in HNF4A and HADH.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20332099 2010 A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts.
19608861 2009 Lysine acetylation targets protein complexes and co-regulates major cellular functions.
19318379 2009 Identification of a diffuse form of hyperinsulinemic hypoglycemia by 18-fluoro-L-3,4 dihydroxyphenylalanine positron emission tomography/CT in a patient carrying a novel mutation of the HADH gene.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17065362 2006 The HADHSC gene encoding short-chain L-3-hydroxyacyl-CoA dehydrogenase (SCHAD) and type 2 diabetes susceptibility: the DAMAGE study.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16176262 2005 3-Hydroxyacyl-CoA dehydrogenase and short chain 3-hydroxyacyl-CoA dehydrogenase in human health and disease.
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).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14693719 2004 Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11489939 2001 Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion.
11451959 2001 Glutamate 170 of human l-3-hydroxyacyl-CoA dehydrogenase is required for proper orientation of the catalytic histidine and structural integrity of the enzyme.
11256614 2000 Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing.
10931422 2000 Short-chain hydroxyacyl-coenzyme A dehydrogenase deficiency presenting as unexpected infant death: A family study.
10840044 2000 Sequestration of the active site by interdomain shifting. Crystallographic and spectroscopic evidence for distinct conformations of L-3-hydroxyacyl-CoA dehydrogenase.
10347277 Fatal hepatic short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency: clinical, biochemical, and pathological studies on three subjects with this recently identified disorder of mitochondrial beta-oxidation.
10231530 1999 Biochemical characterization and crystal structure determination of human heart short chain L-3-hydroxyacyl-CoA dehydrogenase provide insights into catalytic mechanism.
9716664 1998 Structural organization of the human short-chain L-3-hydroxyacyl-CoA dehydrogenase gene.
9185222 Pathology of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
8825408 1996 Mitochondrial short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency: a new defect of fatty acid oxidation.
8687463 1996 Human short-chain L-3-hydroxyacyl-CoA dehydrogenase: cloning and characterization of the coding sequence.
1835339 1991 Short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency in muscle: a new cause for recurrent myoglobinuria and encephalopathy.
975867 1976 A preliminary analysis of the segregation of human hydroxyacyl coenzyme A dehydrogenase in human-mouse somatic cell hybrids.