Property Summary

NCBI Gene PubMed Count 36
Grant Count 70
R01 Count 45
Funding $4,143,676.52
PubMed Score 275.67
PubTator Score 91.75

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession Q16836 J3KQ17 O00324 O00397 O00753 Q4W5B4 HCDH
Symbols HAD
HCDH
HHF4
HADH1
SCHAD
HADHSC
MSCHAD

Gene

PANTHER Protein Class (2)

PDB

1F0Y   1F12   1F14   1F17   1IL0   1LSJ   1LSO   1M75   1M76   2HDH   3HAD   3RQS  

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)
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AA Sequence

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