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ALDH7A1  -  aldehyde dehydrogenase 7 family, member A1

Homo sapiens

 
 
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Disease relevance of ALDH7A1

 

High impact information on ALDH7A1

 

Biological context of ALDH7A1

  • Transfection of the mutant cells with normal PIG-A restored expression of glycosyl phosphatidylinositol anchored proteins but not antiquitin [7].
  • These experiments demonstrated that the pattern of gene expression was different between the two cells lines in that the PIG-A mutant cells failed to express antiquitin mRNA [7].
  • The purified protein, with a subunit M.W. of 57,500, was identified as antiquitin (turgor ALDH) by its first 18 N-terminal amino acid residues, which showed 83% identity with the deduced amino acid sequence of human antiquitin [6].
  • Within this cohort, molecular analysis identified 10 novel mutations (six missense mutations, one nonsense mutation, two splice site mutations) within highly conserved regions of the antiquitin gene [8].
 

Associations of ALDH7A1 with chemical compounds

  • Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene [8].
  • Recently, PDE has been shown to be caused by a defect of alpha-amino adipic semialdehyde (AASA) dehydrogenase (antiquitin) in the cerebral lysine degradation pathway [8].
 

Analytical, diagnostic and therapeutic context of ALDH7A1

References

  1. Structural and mutational analysis of antiquitin as a candidate gene for Menière disease. Lynch, M., Cameron, T.L., Knight, M., Kwok, T.Y., Thomas, P., Forrest, S.M., Giersch, A.B., Briggs, R.J., Pyman, B.C. Am. J. Med. Genet. (2002) [Pubmed]
  2. Mutations in antiquitin in individuals with pyridoxine-dependent seizures. Mills, P.B., Struys, E., Jakobs, C., Plecko, B., Baxter, P., Baumgartner, M., Willemsen, M.A., Omran, H., Tacke, U., Uhlenberg, B., Weschke, B., Clayton, P.T. Nat. Med. (2006) [Pubmed]
  3. Antiquitin, a relatively unexplored member in the superfamily of aldehyde dehydrogenases with diversified physiological functions. Fong, W.P., Cheng, C.H., Tang, W.K. Cell. Mol. Life Sci. (2006) [Pubmed]
  4. Seabream antiquitin: molecular cloning, tissue distribution, subcellular localization and functional expression. Tang, W.K., Chan, C.B., Cheng, C.H., Fong, W.P. FEBS Lett. (2005) [Pubmed]
  5. Human aldehyde dehydrogenase gene family. Yoshida, A., Rzhetsky, A., Hsu, L.C., Chang, C. Eur. J. Biochem. (1998) [Pubmed]
  6. Purification and characterization of two distinct aldehyde-oxidizing enzymes from the liver of black seabream. Fong, W.P., Cheng, C.H., Tang, W.K. Chem. Biol. Interact. (2003) [Pubmed]
  7. Paroxysmal nocturnal hemoglobinuria: analysis of the effects of mutant PIG-A on gene expression. Kanai, N., Vreeke, T.M., Parker, C.J. Am. J. Hematol. (1999) [Pubmed]
  8. Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene. Plecko, B., Paul, K., Paschke, E., Stoeckler-Ipsiroglu, S., Struys, E., Jakobs, C., Hartmann, H., Luecke, T., di Capua, M., Korenke, C., Hikel, C., Reutershahn, E., Freilinger, M., Baumeister, F., Bosch, F., Erwa, W. Hum. Mutat. (2007) [Pubmed]
  9. Purification, N-terminal sequence determination and enzymatic characterization of antiquitin from the liver of grass carp. Chan, W.M., Tang, W.K., Cheng, C.H., Fong, W.P. Comp. Biochem. Physiol. B, Biochem. Mol. Biol. (2003) [Pubmed]
 
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