rs223371
This variant is located in the UBE2D3 gene.
▶Research that mentions this SNP (1)
▶Different roles of two novel susceptibility loci for nonsyndromic orofacial clefts in a Chinese Han population.AssociationN=780Yongchu Pan et al.(2011)· American Journal of Medical Genetics Part A
This case-control study of 396 nonsyndromic orofacial cleft cases and 384 controls in a Chinese Han population confirms that rs13041247 near MAFB is associated with decreased NSOC risk (C allele frequency 0.497 in controls vs 0.356 in cases), with protective effects observed across cleft lip phenotypes. The rs560426 variant near ABCA4 showed no significant association with NSOC in this population, demonstrating population-specific effects of previously identified GWAS loci.
About UBE2D3
The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme functions in the ubiquitination of the tumor-suppressor protein p53, which is induced by an E3 ubiquitin-protein ligase. [provided by RefSeq, Jan 2017]
View all UBE2D3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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