ALDH7A1
Aldehyde dehydrogenase 7 family, member A1 also known as ALDH7A1 or antiquitin is an enzyme that in humans is encoded by the ALDH7A1 gene.[1]
Function
Antiquitin is a member of subfamily 7 in the aldehyde dehydrogenase gene family. These enzymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This particular member has homology to a previously described protein from the green garden pea, the 26g pea turgor protein.[2]
Antiquitin functions as an aldehyde dehydrogenase in the pipecolic acid pathway of lysine catabolism.[3]
Clinical significance
Mutations in this gene cause pyridoxine-dependent epilepsy, which involves a combination of various seizure types and is responsive to immediate administration of pyridoxine hydrochloride.[3]
References
- ^ Skvorak AB, Robertson NG, Yin Y, Weremowicz S, Her H, Bieber FR, Beisel KW, Lynch ED, Beier DR, Morton CC (December 1997). "An ancient conserved gene expressed in the human inner ear: identification, expression analysis, and chromosomal mapping of human and mouse antiquitin (ATQ1)". Genomics 46 (2): 191–9. doi:10.1006/geno.1997.5026. PMID 9417906.
- ^ "Entrez Gene: ALDH7A1". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=501.
- ^ a b Mills PB, Struys E, Jakobs C, Plecko B, Baxter P, Baumgartner M, Willemsen MA, Omran H, Tacke U, Uhlenberg B, Weschke B, Clayton PT (March 2006). "Mutations in antiquitin in individuals with pyridoxine-dependent seizures". Nature Medicine 12 (3): 307–9. doi:10.1038/nm1366. PMID 16491085.
External links
Further reading
- Stelzl U, Worm U, Lalowski M, et al. (2005). "A human protein-protein interaction network: a resource for annotating the proteome.". Cell 122 (6): 957–68. doi:10.1016/j.cell.2005.08.029. PMID 16169070.
- Been JV, Bok LA, Andriessen P, Renier WO (2005). "Epidemiology of pyridoxine dependent seizures in the Netherlands.". Arch. Dis. Child. 90 (12): 1293–6. doi:10.1136/adc.2005.075069. PMC 1720231. PMID 16159904. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1720231.
- Guo Y, Tan LJ, Lei SF, et al. (2010). Georges, Michel. ed. "Genome-wide association study identifies ALDH7A1 as a novel susceptibility gene for osteoporosis.". PLoS Genet. 6 (1): e1000806. doi:10.1371/journal.pgen.1000806. PMC 2794362. PMID 20072603. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2794362.
- Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1356129.
- Gallagher RC, Van Hove JL, Scharer G, et al. (2009). "Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy.". Ann. Neurol. 65 (5): 550–6. doi:10.1002/ana.21568. PMID 19142996.
- Salomons GS, Bok LA, Struys EA, et al. (2007). "An intriguing "silent" mutation and a founder effect in antiquitin (ALDH7A1).". Ann. Neurol. 62 (4): 414–8. doi:10.1002/ana.21206. PMID 17721876.
- Wong JW, Chan CL, Tang WK, et al. (2010). "Is antiquitin a mitochondrial Enzyme?". J. Cell. Biochem. 109 (1): 74–81. doi:10.1002/jcb.22381. PMID 19885858.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=528928.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Kanno J, Kure S, Narisawa A, et al. (2007). "Allelic and non-allelic heterogeneities in pyridoxine dependent seizures revealed by ALDH7A1 mutational analysis.". Mol. Genet. Metab. 91 (4): 384–9. doi:10.1016/j.ymgme.2007.02.010. PMID 17433748.
- Striano P, Battaglia S, Giordano L, et al. (2009). "Two novel ALDH7A1 (antiquitin) splicing mutations associated with pyridoxine-dependent seizures.". Epilepsia 50 (4): 933–6. doi:10.1111/j.1528-1167.2008.01741.x. PMID 18717709.
- Kluger G, Blank R, Paul K, et al. (2008). "Pyridoxine-dependent epilepsy: normal outcome in a patient with late diagnosis after prolonged status epilepticus causing cortical blindness.". Neuropediatrics 39 (5): 276–9. doi:10.1055/s-0029-1202833. PMID 19294602.
- Plecko B, Paul K, Paschke E, et al. (2007). "Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene.". Hum. Mutat. 28 (1): 19–26. doi:10.1002/humu.20433. PMID 17068770.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241.
- Kaczorowska M, Kmiec T, Jakobs C, et al. (2008). "Pyridoxine-dependent seizures caused by alpha amino adipic semialdehyde dehydrogenase deficiency: the first polish case with confirmed biochemical and molecular pathology.". J. Child Neurol. 23 (12): 1455–9. doi:10.1177/0883073808318543. PMID 18854520.
- Bennett CL, Chen Y, Hahn S, et al. (2009). "Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients.". Epilepsia 50 (5): 1167–75. doi:10.1111/j.1528-1167.2008.01816.x. PMID 19128417.
- Bok LA, Struys E, Willemsen MA, et al. (2007). "Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels.". Arch. Dis. Child. 92 (8): 687–9. doi:10.1136/adc.2006.103192. PMC 2083882. PMID 17088338. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2083882.
- Tomarev SI, Wistow G, Raymond V, et al. (2003). "Gene expression profile of the human trabecular meshwork: NEIBank sequence tag analysis.". Invest. Ophthalmol. Vis. Sci. 44 (6): 2588–96. doi:10.1167/iovs.02-1099. PMID 12766061.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.