HK1 across dismech

HK1 (hexokinase 1) is named by 3 disorder entries.

Normal function

ai-gene-review gives HK1's core molecular function as hexokinase activity, acting in glucose metabolic process; and glycolytic process, and located in cytosol; and mitochondrial outer membrane.

Causative records

Two entries type HK1 as causative: Charcot-Marie-Tooth Disease Type 4; and Hyperinsulinemic Hypoglycemia. Only Hyperinsulinemic Hypoglycemia records the variant origin, as germline (Hyperinsulinemic Hypoglycemia); Charcot-Marie-Tooth Disease Type 4's is unrecorded, and that entry places HK1 on 0 pathophysiology nodes.

In Hyperinsulinemic Hypoglycemia, HK1 shares the node Lowered Beta-Cell Glucose Set-Point with GCK. The entry records that HK1 is normally silenced in beta cells and that non-coding variants lifting the silencing install an inappropriate low-threshold glucose sensor: ectopic expression of the normal enzyme activity rather than a change in it.

Other records

Amyotrophic Lateral Sclerosis places HK1 on the node TDP-43-Driven Glycolytic Failure but has no genetic record for it, which is expected for a gene acting downstream of the disease process rather than causing it.

Where the layers agree

The KB's HK1 nodes carry glycolytic process; and regulation of insulin secretion, and the KB and ai-gene-review share glycolytic process. ClinGen classifies HK1 for 0 diseases in the pinned snapshot.