ai-gene-review has this gene at status INITIALIZED; the description is shown only once the review is complete. Read the draft upstream.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Essential Fructosuria | causative germline loss of function |
mechanism: Biallelic KHK Loss-of-Function Variants; Hepatic Ketohexokinase-C Deficiency
|
| Isolated Sedoheptulokinase Deficiency | no genetic record |
mechanism: Fructokinase and aldolase B bypass to erythritol
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.