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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Gene Review: 

Hadha  -  hydroxyacyl-Coenzyme A dehydrogenase/3...

Mus musculus

Synonyms: C77020, Mtpa, TP-alpha, Trifunctional enzyme subunit alpha, mitochondrial
 
 
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Disease relevance of Hadha

 

High impact information on Hadha

  • The Mtpa(-/-) fetuses accumulate long chain fatty acid metabolites and have low birth weight compared with the Mtpa(+/-) and Mtpa(+/+) littermates [1].
  • Analysis of the histopathological changes in the Mtpa(-/-) pups revealed rapid development of hepatic steatosis after birth and, later, significant necrosis and acute degeneration of the cardiac and diaphragmatic myocytes [1].
  • Whole genome homozygosity mapping with 262 SNP markers mapped the disease gene to chromosome 5 where candidate genes Hadha and Hadhb, encoding the mitochondria trifunctional protein (MTP) alpha- and beta-subunits, respectively, are located [2].

References

  1. Lack of mitochondrial trifunctional protein in mice causes neonatal hypoglycemia and sudden death. Ibdah, J.A., Paul, H., Zhao, Y., Binford, S., Salleng, K., Cline, M., Matern, D., Bennett, M.J., Rinaldo, P., Strauss, A.W. J. Clin. Invest. (2001) [Pubmed]
  2. ENU mutagenesis identifies mice with cardiac fibrosis and hepatic steatosis caused by a mutation in the mitochondrial trifunctional protein {beta}-subunit. Kao, H.J., Cheng, C.F., Chen, Y.H., Hung, S.I., Huang, C.C., Millington, D., Kikuchi, T., Wu, J.Y., Chen, Y.T. Hum. Mol. Genet. (2006) [Pubmed]
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