PFKL Chromosome 21
Phosphofructokinase, liver type
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What This Gene Does
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]
Gene Info
Gene Group
Phosphofructokinase family
Locus Type
gene with protein product
Location
21q22.3
Ensembl
ENSG00000141959
Associated Conditions (1)
PFKL-related disorder
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS118106526 | Health Risk | Conflicting classifications of pathogenicity | PFKL-related disorder, PFKL-related disorder |