KHK Chromosome 2
Ketohexokinase
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What This Gene Does
This gene encodes ketohexokinase that catalyzes conversion of fructose to fructose-1-phosphate. The product of this gene is the first enzyme with a specialized pathway that catabolizes dietary fructose. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Associated Conditions (1)
Essential fructosuria
Key Variants
RS114353144
Conflicting classifications of pathogenicity
Essential fructosuria, Essential fructosuria
Health Risk
RS780961189
Conflicting classifications of pathogenicity
Essential fructosuria, Essential fructosuria
Health Risk
RS104893644
Pathogenic
Essential fructosuria, Essential fructosuria
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS114353144 | Health Risk | Conflicting classifications of pathogenicity | Essential fructosuria, Essential fructosuria |
| RS780961189 | Health Risk | Conflicting classifications of pathogenicity | Essential fructosuria, Essential fructosuria |
| RS104893644 | Health Risk | Pathogenic | Essential fructosuria, Essential fructosuria |