rs866116296
This variant is located in the PFKL gene.
▶ClinVar annotation
About PFKL
This gene encodes the liver (L) subunit of an enzyme that catalyzes the conversion of D-fructose 6-phosphate to D-fructose 1,6-bisphosphate, which is a key step in glucose metabolism (glycolysis). This enzyme is a tetramer that may be composed of different subunits encoded by distinct genes in different tissues. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
View all PFKL variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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