PFKFB1 Chromosome X

6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1
2 variants 2 Health Risk

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What This Gene Does
This gene encodes a member of the family of bifunctional 6-phosphofructo-2-kinase:fructose-2,6-biphosphatase enzymes. The enzyme forms a homodimer that catalyzes both the synthesis and degradation of fructose-2,6-biphosphate using independent catalytic domains. Fructose-2,6-biphosphate is an activator of the glycolysis pathway and an inhibitor of the gluconeogenesis pathway. Consequently, regulating fructose-2,6-biphosphate levels through the activity of this enzyme is thought to regulate glucose homeostasis. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2012]
Gene Info
Gene Group
6-phosphofructo-2-kinase/fructose-2,6-biphosphatase family
Locus Type
gene with protein product
Location
Xp11.21
Ensembl
ENSG00000158571
Key Variants
All Variants (2)
RSID Category Clinical Significance Conditions
RS148416501 Health Risk Conflicting classifications of pathogenicity
RS376959812 Health Risk Conflicting classifications of pathogenicity
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