rs34259
This is a downstream gene variant variant in the ACACB gene.
▶Research that mentions this SNP (1)
▶A common SNP in the UNG gene decreases ovarian cancer risk in BRCA2 mutation carriersAssociationN=344Juan Miguel Baquero et al.(2019)· Molecular Oncology
This study validated that SNP rs34259 in the UNG gene (3' UTR) decreases ovarian cancer risk in BRCA2 mutation carriers (HR: 0.80, 95% CI: 0.69-0.94, P = 7.6×10⁻³), and demonstrated the molecular mechanism through reduced UNG expression and activity. The variant is associated with lower UNG mRNA/protein levels, decreased uracil accumulation at telomeres, lower oxidative DNA damage, reduced oxidative stress susceptibility, and shorter telomeres in BRCA2 carriers, all contributing to the protective effect against cancer.
About ACACB
Acetyl-CoA carboxylase (ACC) is a complex multifunctional enzyme system. ACC is a biotin-containing enzyme which catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the rate-limiting step in fatty acid synthesis. ACC-beta is thought to control fatty acid oxidation by means of the ability of malonyl-CoA to inhibit carnitine-palmitoyl-CoA transferase I, the rate-limiting step in fatty acid uptake and oxidation by mitochondria. ACC-beta may be involved in the regulation of fatty acid oxidation, rather than fatty acid biosynthesis. [provided by RefSeq, Oct 2022]
View all ACACB variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…