rs17016462
This is a intron variant variant in the RARB gene.
▶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 RARB
This gene encodes retinoic acid receptor beta, a member of the thyroid-steroid hormone receptor superfamily of nuclear transcriptional regulators. This receptor localizes to the cytoplasm and to subnuclear compartments. It binds retinoic acid, the biologically active form of vitamin A which mediates cellular signalling in embryonic morphogenesis, cell growth and differentiation. It is thought that this protein limits growth of many cell types by regulating gene expression. The gene was first identified in a hepatocellular carcinoma where it flanks a hepatitis B virus integration site. Alternate promoter usage and differential splicing result in multiple transcript variants. [provided by RefSeq, Mar 2014]
View all RARB variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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