rs16939660
This is a synonymous variant in the ALDH1A2 gene — it does not change the protein's amino acid sequence.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Association of retinoic acid receptor genes with meningomyeloceleAssociationN=610Phong X. Tran et al.(2011)· Birth Defects Research Part A: Clinical and Molecular Teratology
A candidate gene association study of 610 meningomyelocele families identified 5 SNPs in retinoic acid receptor genes (RARA, RARB, RARG) significantly associated with meningomyelocele risk (p < 0.05). The variants rs12051734 (RARA), rs6799734, rs12630816, rs17016462 (RARB), and rs3741434 (RARG) all showed protective effects for the rare alleles, consistent with animal models implicating retinoic acid signaling in neural tube defect development.
About ALDH1A2
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]
View all ALDH1A2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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