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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