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Gene Review

HADH  -  hydroxyacyl-CoA dehydrogenase

Homo sapiens

Synonyms: HAD, HADH1, HADHSC, HCDH, HHF4, ...
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Disease relevance of HADH


Psychiatry related information on HADH

  • 17Beta-HSD10/SCHAD mutations cause a spectrum of clinical conditions, from mild mental retardation to progressive infantile neurodegeneration [5].

High impact information on HADH

  • Strikingly, one of these genes, Hadhsc, encodes short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase, deficiency of which has been shown to cause PHHI in humans [6].
  • Sequencing of the short-chain L-3-hydroxyacyl-CoA dehydrogenase (SCHAD) genomic DNA from the fibroblasts showed a homozygous mutation (C773T) changing proline to leucine at amino acid 258 [7].
  • The presumed function of the SCHAD enzyme in glucose-stimulated insulin secretion led us to the hypothesis that common variants in HADHSC on chromosome 4q22-26 might be associated with development of type 2 diabetes [1].
  • The present study provides no evidence that the specific HADHSC variants or haplotypes examined do influence susceptibility to develop type 2 diabetes [1].
  • Direct sequencing of HADHSC cDNA and databank analysis identified four tagging single nucleotide polymorphisms (SNPs) including one missense variant (P86L) [1].

Biological context of HADH

  • By radiation hybrid panel, assisted fine-mapping HADHSC was linked to marker AFM070TH5, corresponding to Chromosome (Chr) 4q22-26, and a putative HADHSC pseudogene was linked to marker D15S1324, located at Chr 15q17-21 [8].
  • The HADHSC 5'-flanking region was characterized with an AluI plasmid library constructed from a partially AluI-digested PAC clone containing the human HADHSC gene [8].
  • Upon comparison with the HADHSC cDNA sequence, HADHSC was shown to encompass at least eight exons, ranging in size from 73 to 158 bp, and 7 introns [8].
  • The deduced amino acid sequence of the mature protein shows a 92 percent identity with SCHAD from pig heart [9].
  • Screening of a cDNA library combined with rapid amplification of 5' cDNA ends resulted in a SCHAD cDNA sequence of 1877 bp [9].

Anatomical context of HADH


Associations of HADH with chemical compounds

  • Urine metabolite analysis showed that SCHAD deficiency resulted in specific excretion of 3-hydroxyglutaric acid [2].
  • The crystal structure of SCHAD complexed with NAD+ has been solved using multiwavelength anomalous diffraction techniques and a selenomethionine-substituted analogue of the enzyme [11].
  • Northern blot analysis revealed that the human SCHAD gene is expressed in both gonadal and peripheral tissues including the prostate whose growth notably requires DHT, the most potent androgen [3].
  • SCHAD, also known as 17beta-hydroxysteroid dehydrogenase type 10, is important in brain development and aging [4].
  • HAD has a preference for medium chain substrates, whereas short chain 3-hydroxyacyl-CoA dehydrogenase (SCHAD) acts on a wide spectrum of substrates, including steroids, cholic acids, and fatty acids, with a preference for short chain methyl-branched acyl-CoAs [4].

Other interactions of HADH

  • This report describes the clinical, biochemical, and pathological findings in three infants with hepatic short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase (SCHAD) deficiency, a recently recognized disorder of the mitochondrial oxidation of straight-chain fatty acids [12].

Analytical, diagnostic and therapeutic context of HADH


  1. The HADHSC Gene Encoding Short-Chain L-3-Hydroxyacyl-CoA Dehydrogenase (SCHAD) and Type 2 Diabetes Susceptibility: The DAMAGE Study. van Hove, E.C., Hansen, T., Dekker, J.M., Reiling, E., Nijpels, G., J??rgensen, T., Borch-Johnsen, K., Hamid, Y.H., Heine, R.J., Pedersen, O., Maassen, J.A., 't Hart, L.M. Diabetes (2006) [Pubmed]
  2. Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation. Molven, A., Matre, G.E., Duran, M., Wanders, R.J., Rishaug, U., Njølstad, P.R., Jellum, E., Søvik, O. Diabetes (2004) [Pubmed]
  3. Function of human brain short chain L-3-hydroxyacyl coenzyme A dehydrogenase in androgen metabolism. He, X.Y., Merz, G., Yang, Y.Z., Pullakart, R., Mehta, P., Schulz, H., Yang, S.Y. Biochim. Biophys. Acta (2000) [Pubmed]
  4. 3-Hydroxyacyl-CoA dehydrogenase and short chain 3-hydroxyacyl-CoA dehydrogenase in human health and disease. Yang, S.Y., He, X.Y., Schulz, H. FEBS J. (2005) [Pubmed]
  5. Multiple functions of type 10 17beta-hydroxysteroid dehydrogenase. Yang, S.Y., He, X.Y., Schulz, H. Trends Endocrinol. Metab. (2005) [Pubmed]
  6. Foxa2 regulates multiple pathways of insulin secretion. Lantz, K.A., Vatamaniuk, M.Z., Brestelli, J.E., Friedman, J.R., Matschinsky, F.M., Kaestner, K.H. J. Clin. Invest. (2004) [Pubmed]
  7. Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion. Clayton, P.T., Eaton, S., Aynsley-Green, A., Edginton, M., Hussain, K., Krywawych, S., Datta, V., Malingre, H.E., Berger, R., van den Berg, I.E. J. Clin. Invest. (2001) [Pubmed]
  8. Structural organization of the human short-chain L-3-hydroxyacyl-CoA dehydrogenase gene. Vredendaal, P.J., van den Berg, I.E., Stroobants, A.K., van der A, D.L., Malingré, H.E., Berger, R. Mamm. Genome (1998) [Pubmed]
  9. Human short-chain L-3-hydroxyacyl-CoA dehydrogenase: cloning and characterization of the coding sequence. Vredendaal, P.J., van den Berg, I.E., Malingré, H.E., Stroobants, A.K., Olde Weghuis, D.E., Berger, R. Biochem. Biophys. Res. Commun. (1996) [Pubmed]
  10. Description and morphometric variability of Paranoplocephala serrata n. sp. (Cestoda: Anoplocephalidae) in collared lemmings (Dicrostonyx spp., Arvicolinae) from Arctic Siberia and North America. Haukisalmi, V., Henttonen, H. Syst. Parasitol. (2000) [Pubmed]
  11. Biochemical characterization and crystal structure determination of human heart short chain L-3-hydroxyacyl-CoA dehydrogenase provide insights into catalytic mechanism. Barycki, J.J., O'Brien, L.K., Bratt, J.M., Zhang, R., Sanishvili, R., Strauss, A.W., Banaszak, L.J. Biochemistry (1999) [Pubmed]
  12. 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. Bennett, M.J., Spotswood, S.D., Ross, K.F., Comfort, S., Koonce, R., Boriack, R.L., IJlst, L., Wanders, R.J. Pediatr. Dev. Pathol. (1999) [Pubmed]
  13. An immunological and biochemical comparison of hookworm species. Pritchard, D.I., McKean, P.G., Schad, G.A. Parasitol. Today (Regul. Ed.) (1990) [Pubmed]
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