Article
Nonsynonymous single-nucleotide polymorphisms in the G6PC2 gene affect protein expression, enzyme activity, and fasting blood glucose.
The Journal of biological chemistry - 1 Feb 2022
Overway Emily M, Bosma Karin J, Claxton Derek P, Oeser James K, Singh Kritika, Breidenbach Lindsay B, Mchaourab Hassane S, Davis Lea K, O'Brien Richard M
Abstract excerpt
G6PC2 encodes a glucose-6-phosphatase (G6Pase) catalytic subunit that modulates the sensitivity of insulin secretion to glucose and thereby regulates fasting blood glucose (FBG). A common single-nucleotide polymorphism (SNP) in G6PC2, rs560887 is an important determinant of human FBG variability. This SNP has a subtle effect on G6PC2 RNA splicing, which raises the question as to whether nonsynonymous SNPs with a...
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