ALDH1A2

aldehyde dehydrogenase 1 family member A2

Summary

This protein belongs to the aldehyde dehydrogenase family of proteins. The product of this gene is an enzyme that catalyzes the synthesis of retinoic acid (RA) from retinaldehyde. Retinoic acid, the active derivative of vitamin A (retinol), is a hormonal signaling molecule that functions in developing and adult tissues. The studies of a similar mouse gene suggest that this enzyme and the cytochrome CYP26A1, concurrently establish local embryonic retinoic acid levels which facilitate posterior organ development and prevent spina bifida. Four transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2011]

Known Variants76 total

rsidPosition (GRCh37)AllelesClassClinVar
rs320468915:58,246,802G/A——
rs464664215:58,246,916A/G3 prime UTR variant—
rs76490938315:58,247,410G/C—likely benign
rs20079876915:58,247,411G/A—uncertain significance
rs250481916915:58,247,412G/C—uncertain significance
rs75147928715:58,247,431C/G—uncertain significance
rs13978512815:58,247,449C/T—likely benign
rs464664015:58,247,563C/G—benign
rs717089615:58,252,393T/Aintron variant—
rs3468273415:58,252,734C/T—benign
rs464663415:58,252,851G/A—benign
rs18937607015:58,252,958T/G—benign
rs378426315:58,253,062C/T—benign
rs378426215:58,253,106T/Cintron variantbenign
rs378426015:58,253,269T/G—benign
rs250483474615:58,253,362G/T—pathogenic
rs3525151015:58,253,490G/T—benign
rs3515366815:58,254,178T/A—benign
rs20080496815:58,254,226C/T—likely benign
rs74912450815:58,254,314C/T—pathogenic
rs77078353315:58,254,315G/A—likely benign
rs144246672815:58,254,334T/C—uncertain significance
rs189374362415:58,254,352T/C—uncertain significance
rs250483845615:58,254,375C/A—uncertain significance
rs211985915:58,254,745T/Cintron variant—
rs76781319815:58,256,106G/A—uncertain significance
rs14124534415:58,256,129C/T—pathogenic
rs146634291115:58,256,135T/A—uncertain significance
rs464662515:58,256,296C/T—benign
rs464662315:58,257,123T/Gintron variant—
rs378425915:58,257,847C/Tintron variantbenign
rs214045472815:58,257,974T/C—uncertain significance
rs142499796715:58,257,986A/C—uncertain significance
rs20105691215:58,257,991C/T—uncertain significance
rs74601347215:58,258,006T/G—uncertain significance
rs464662015:58,258,241G/A—benign
rs464661915:58,258,342A/G—benign
rs1232419715:58,270,491A/G——
rs144181515:58,274,229C/G——
rs18965902515:58,274,702G/Aupstream gene variant—
rs1291590115:58,279,432G/Aintron variant—
rs182220515:58,284,657C/A—benign
rs14462826115:58,284,966C/T—benign
rs75657334415:58,284,989T/C—uncertain significance
rs464660715:58,285,388C/A—benign
rs1697788515:58,285,595A/G—benign
rs189935515:58,286,989T/C—benign
rs250483760715:58,287,287G/T—pathogenic
rs250483770915:58,287,301A/G—uncertain significance
rs398573315:58,287,435C/A—benign
rs7879451515:58,287,473G/A—benign
rs464660615:58,287,526A/G—benign
rs464660515:58,287,912C/Aintron variant—
rs3396020615:58,288,731C/Gintron variant—
rs137236915:58,294,381T/C——
rs1291550815:58,302,036G/C——
rs464659215:58,302,557G/A—benign
rs1693966015:58,302,887T/Csynonymous variantlikely benign
rs11587597815:58,302,889C/A—benign
rs464659115:58,303,002C/G—benign
rs464659015:58,303,137C/T—benign
rs464658915:58,303,165C/T—benign
rs6175767815:58,306,161C/T—likely benign
rs189572301115:58,306,394T/C—uncertain significance
rs464658315:58,306,551G/A—benign
rs1290320215:58,306,793G/A—benign
rs11224252015:58,324,835A/Tintron variant—
rs464658015:58,329,211A/Gintron variant—
rs1107136515:58,334,126G/Aintron variant—
rs423832615:58,336,000T/Cintron variant—
rs53230454715:58,341,080G/A——
rs14538170615:58,357,738G/A—likely benign
rs250498727715:58,357,757G/A—uncertain significance
rs14308439715:58,357,800C/T—likely benign
rs76411703115:58,357,821C/G—uncertain significance
rs3464525915:58,357,854C/T—benign

Gene information from NCBI Gene. Variant classifications from ClinVar.