rs5861422
This variant is located in the FABP2 gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Type 2 diabetes-associated fatty acid binding protein 2 promoter haplotypes are differentially regulated by GATA factorsFunctionalMaja Klapper et al.(2008)· Human Mutation
This functional study demonstrates that FABP2 promoter haplotypes A and B differ in transcriptional activity by 2-3 fold, with haplotype B showing lower activity. The c.-80_-79insT polymorphism (rs5861422) is the primary determinant of this differential regulation, operating through stronger binding of GATA-5 and GATA-6 transcription factors to the haplotype A allele in intestinal cells.
About FABP2
The protein encoded by this gene is an intracellular fatty acid-binding protein that participates in the uptake, intracellular metabolism, and transport of long-chain fatty acids. The encoded protein is also involved in the modulation of cell growth and proliferation. This protein binds saturated long-chain fatty acids with high affinity, and may act as a lipid sensor to maintain energy homeostasis. [provided by RefSeq, Aug 2017]
View all FABP2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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