Homo sapiens aldehyde dehydrogenase 7 family, member A1 (ALDH7A1), transcript variant 2, mRNA.
|RefSeq Version||NM_001202404.1, 320202963|
|Organism||Homo sapiens (human)|
|Definition||Homo sapiens aldehyde dehydrogenase 7 family, member A1 (ALDH7A1), transcript variant 2, mRNA.|
|Product||alpha-aminoadipic semialdehyde dehydrogenase isoform 3|
Summary: The protein encoded by this gene 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. It is also involved in lysine catabolism that is known to occur in the mitochondrial matrix. Recent reports show that this protein is found both in the cytosol and the mitochondria, and the two forms likely arise from the use of alternative translation initiation sites. An additional variant encoding a different isoform has also been found for this gene. Mutations in this gene are associated with pyridoxine-dependent epilepsy. Several related pseudogenes have also been identified. [provided by RefSeq].
Transcript Variant: This variant (2) is missing two in-frame coding exons compared to variant 1, resulting in a shorter isoform (3) lacking an internal protein segment compared to isoform 1.
Sequence Note: This Refseq, containing three potential in-frame translation initiation codons (all with weak Kozak signals), is annotated with a CDS starting from the upstream start codon (at nt 112-114). While this variant has transcript support, the localization and/or function of this isoform is not known. Translation from the downstream AUGs (at nt 193-195 and 277-279) may occur by leaky scanning. This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The extent of this transcript is supported by transcript alignments.
|CDS||112..1620||Exon (1)||1..384||Exon (2)||1..384||Exon (3)||385..438||Exon (4)||439..504||Exon (5)||505..585||Exon (6)||586..709||Exon (7)||710..842||Exon (8)||843..887||Exon (9)||888..965||Exon (10)||966..1063||Exon (11)||1064..1105||Exon (12)||1106..1200||Exon (13)||1201..1317||Exon (14)||1318..1415||Exon (15)||1416..1489||Exon (16)||1490..1565||Exon (17)||1566..4744|
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|Gene Synonym||ATQ1; EPD; FLJ11738; FLJ92814; PDE|
|All Transcripts||NM_001202404 , NM_001182 , NM_001201377|
|Title||The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1 .|
|Author||Scharer,G., Brocker,C., Vasiliou,V., Creadon-Swindell,G., Gallagher,R.C., Spector,E. and Van Hove,J.L.|
|Journal||J. Inherit. Metab. Dis. 33 (5), 571-581 (2010)|
|Title||Protein oxidation in Huntington disease affects energy production and vitamin B6 metabolism .|
|Author||Sorolla,M.A., Rodriguez-Colman,M.J., Tamarit,J., Ortega,Z., Lucas,J.J., Ferrer,I., Ros,J. and Cabiscol,E.|
|Journal||Free Radic. Biol. Med. 49 (4), 612-621 (2010)|
|Title||Aldehyde dehydrogenase 7A1 (ALDH7A1) is a novel enzyme involved in cellular defense against hyperosmotic stress .|
|Author||Brocker,C., Lassen,N., Estey,T., Pappa,A., Cantore,M., Orlova,V.V., Chavakis,T., Kavanagh,K.L., Oppermann,U. and Vasiliou,V.|
|Journal||J. Biol. Chem. 285 (24), 18452-18463 (2010)|
|Title||Variants in KCNQ1, AP3S1, MAN2A1, and ALDH7A1 and the risk of type 2 diabetes in the Chinese Northern Han population: a case-control study and meta-analysis .|
|Author||Zhou,J.B., Yang,J.K., Zhao,L. and Xin,Z.|
|Journal||Med. Sci. Monit. 16 (6), BR179-BR183 (2010)|
|Title||Is antiquitin a mitochondrial Enzyme? .|
|Author||Wong,J.W., Chan,C.L., Tang,W.K., Cheng,C.H. and Fong,W.P.|
|Journal||J. Cell. Biochem. 109 (1), 74-81 (2010)|
|Title||Genetic variants in nuclear-encoded mitochondrial genes influence .|
|Author||Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M., Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D., Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J.|
|Journal||PLoS ONE 5 (9), E12862 (2010)|
|Title||Gene expression profile of the human trabecular meshwork: NEIBank sequence tag analysis .|
|Author||Tomarev,S.I., Wistow,G., Raymond,V., Dubois,S. and Malyukova,I.|
|Journal||Invest. Ophthalmol. Vis. Sci. 44 (6), 2588-2596 (2003)|
|Title||A gene for pyridoxine-dependent epilepsy maps to chromosome 5q31 .|
|Author||Cormier-Daire,V., Dagoneau,N., Nabbout,R., Burglen,L., Penet,C., Soufflet,C., Desguerre,I., Munnich,A. and Dulac,O.|
|Journal||Am. J. Hum. Genet. 67 (4), 991-993 (2000)|
|Title||An ancient conserved gene expressed in the human inner ear: identification, expression analysis, and chromosomal mapping of human and mouse antiquitin (ATQ1) .|
|Author||Skvorak,A.B., Robertson,N.G., Yin,Y., Weremowicz,S., Her,H., Bieber,F.R., Beisel,K.W., Lynch,E.D., Beier,D.R. and Morton,C.C.|
|Journal||Genomics 46 (2), 191-199 (1997)|
|Title||Homology between a human protein and a protein of the green garden pea .|
|Author||Lee,P., Kuhl,W., Gelbart,T., Kamimura,T., West,C. and Beutler,E.|
|Journal||Genomics 21 (2), 371-378 (1994)|
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