rs7646
This variant is located in the MTHFD1L gene.
▶Research that mentions this SNP (1)
▶An NTD-Associated Polymorphism in the 3′ UTR of MTHFD1L can Affect Disease Risk by Altering miRNA BindingFunctionalMinguzzi S. et al.(2014)· Human Mutation
This functional study demonstrates that the GDF15 3' UTR variant rs1054564 (G>C) results in allele-specific translational repression of GDF15 by microRNA hsa-miR-1233-3p and hsa-miR-873-5p. Using bioinformatics prediction and in vitro luciferase reporter assays in HEK293T and A2058 melanoma cells, the authors show that the rs1054564-G allele creates stronger miRNA binding sites (lower free energy), leading to significantly decreased luciferase activity (P<0.05). Western blots confirmed that transfection of both miRNA mimics significantly decreased endogenous GDF15 expression (P<0.05), with hsa-miR-1233-3p showing significant allele-specific differences (P=0.034).
About MTHFD1L
The protein encoded by this gene is involved in the synthesis of tetrahydrofolate (THF) in the mitochondrion. THF is important in the de novo synthesis of purines and thymidylate and in the regeneration of methionine from homocysteine. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2011]
View all MTHFD1L variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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