Curated summary · agent-written · kb/genes/curated/hgnc_59.md

All 16 claims checked against the KB draft

ABCC8 across dismech

ABCC8 (ATP binding cassette subfamily C member 8) is named by 4 disorder entries, including Congenital Isolated Hyperinsulinism; and Hyperinsulinemic Hypoglycemia.

Normal function

ai-gene-review gives SUR1's core molecular functions as ATP hydrolysis activity; and potassium channel regulator activity, at the plasma membrane, acting in potassium ion transmembrane transport; and regulation of insulin secretion.

Causative records

The causative records with a germline variant origin are Congenital Isolated Hyperinsulinism; and Hyperinsulinemic Hypoglycemia. In Congenital Isolated Hyperinsulinism the gene sits on KATP Channel Loss of Function; in Hyperinsulinemic Hypoglycemia it also sits on Focal Lesion Formation by Paternal K-ATP Variant and Somatic 11p15 Maternal Loss. Diabetes mellitus records the gene as causative, with ClinGen rating it definitive for monogenic diabetes.

Where the layers agree and disagree

The KB and ai-gene-review share 2 GO process terms: potassium ion transmembrane transport; and regulation of insulin secretion. ClinGen classifies ABCC8 for 4 diseases; those with no matching dismech entry are hyperinsulinemic hypoglycemia, familial, 1; and hyperinsulinism. The hyperinsulinism entries cover this biology, but they map HHF1 only as a narrower match and do not bind the broader hyperinsulinism class, so neither ClinGen tier is recorded on them.

Underlined values are claims re-computed from the knowledge base each time this page is built. The tables below are the source of truth.

Normal function · from ai-gene-review (Q09428, commit 79fe13b38970) · AI-generated, not KB evidence

ai-gene-review has this gene at status DRAFT; the description is shown only once the review is complete. Read the draft upstream.

In the knowledge base · computed from kb/ at build time

Disorders

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
Congenital Isolated Hyperinsulinism	causative germline	mechanism: KATP Channel Loss of Function subtype: KATP-HI Diffuse; KATP-HI Focal scoped to subtype: KATP-HI Diffuse
Diabetes mellitus	causative	mechanism: Monogenic Beta-Cell Dysfunction subtype: PNDM3; TNDM2; maturity-onset diabetes of the young, type 12 scoped to subtype: PNDM3, TNDM2, monogenic diabetes
Hyperinsulinemic Hypoglycemia	causative germline	mechanism: Focal Lesion Formation by Paternal K-ATP Variant and Somatic 11p15 Maternal Loss; K-ATP Channel Loss of Function subtype: Atypical HI; Diazoxide-Unresponsive HI; Diffuse HI; Focal HI
Placental Abruption	susceptibility

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
hyperinsulinism MONDO:0002177	AD	Definitive 2026-01-20	no dismech entry
hyperinsulinemic hypoglycemia, familial, 1 MONDO:0009734	AR	Definitive 2026-01-20	no dismech entry
pulmonary arterial hypertension MONDO:0015924	AD	Moderate 2025-03-12	Pulmonary_hypertension not named
monogenic diabetes MONDO:0015967	SD	Definitive 2022-07-24	Diabetes mellitus causative