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

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Gene: ALDH7A1 - aldehyde dehydrogenase 7 family, member A1

Homo sapiens

Synonyms: Aldehyde dehydrogenase family 7 member A1, Alpha-AASA dehydrogenase, Alpha-aminoadipic semialdehyde dehydrogenase, Antiquitin-1, ATQ1, Delta1-piperideine-6-carboxylate dehydrogenease, EPD, FLJ11738, FLJ92814, P6c dehydrogenase, PDE

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Plecko, B., Yoshida, A., Chan, W.M., Kanai, N., Fong, W.P., et al.

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Disease relevance of ALDH7A1

Structural and mutational analysis of antiquitin as a candidate gene for Menière disease [1].

High impact information on ALDH7A1

Mutations in antiquitin in individuals with pyridoxine-dependent seizures [2].
Antiquitin is a member of the aldehyde dehydrogenase superfamily [3].
Seabream antiquitin: molecular cloning, tissue distribution, subcellular localization and functional expression [4].
The neighbor-joining tree derived from 12 human ALDHs and antiquitin indicates that diversification within the ALDH1/2/5/6 gene cluster occurred during the Neoproterozoic period (about 800 million years ago) [5].
The Vmax of antiquitin was only approximately 12% of ALDH-2 [6].

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

Measurement of urinary alpha-AASA provides a simple way of confirming the diagnosis of PDS and ALDH7A1 gene analysis provides a means for prenatal diagnosis [2].
Results of RT-PCR indicate that antiquitin is highly expressed in both the seabream liver and kidney [4].
Purification, N-terminal sequence determination and enzymatic characterization of antiquitin from the liver of grass carp [9].

References

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)
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)
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)
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)
Human aldehyde dehydrogenase gene family. Yoshida, A., Rzhetsky, A., Hsu, L.C., Chang, C. Eur. J. Biochem. (1998)
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)
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)
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)
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)