SLC16A1 across dismech

SLC16A1 (solute carrier family 16 member 1, the monocarboxylate transporter MCT1) is named by 2 disorder entries.

Disease records

Both entries type SLC16A1 as causative, Congenital Isolated Hyperinsulinism; and Hyperinsulinemic Hypoglycemia, and both record the variants as germline (Congenital Isolated Hyperinsulinism; and Hyperinsulinemic Hypoglycemia). The disease is exercise-induced hyperinsulinism: promoter variants de-repress the transporter in beta cells, where it is normally silenced, so pyruvate and lactate released during exercise can trigger insulin secretion. In Congenital Isolated Hyperinsulinism the gene sits on the node Ectopic Beta-Cell Monocarboxylate Transport, and in Hyperinsulinemic Hypoglycemia on Ectopic Beta-Cell MCT1 Monocarboxylate Import. Both nodes bind lactate:proton symporter activity as increased, because the transporter is expressed ectopically in the beta cell. Neither entry records a functional-impact category for the gene.

Normal function

The KB annotates the SLC16A1 nodes with insulin secretion; pyruvate transmembrane transport; and regulation of insulin secretion. The ai-gene-review layer pinned in the ingest currently lists 0 core-function terms for SLC16A1, so the two layers share 0 GO terms. An upstream ai-gene-review entry for MCT1 is being completed, centred on lactate:proton symport and pyruvate transmembrane transport at the plasma membrane; once the ingest is refreshed, the KB's pyruvate transport term should match it.

ClinGen

ClinGen classifies SLC16A1 for 0 diseases in the pinned snapshot, so neither entry's causative typing can be checked against it.