INS

Insulin is a 51-amino acid peptide hormone composed of two polypeptide chains (A-chain and B-chain) linked by disulfide bonds. It is synthesized as preproinsulin in pancreatic beta cells, processed through the secretory pathway to generate mature insulin, and secreted into the extracellular space in response to elevated blood glucose. The primary core function of insulin is regulation of glucose homeostasis through binding to the insulin receptor, triggering intracellular signaling cascades (primarily PI3K/AKT and MAPK pathways) that stimulate glucose uptake in muscle and adipose tissue, suppress hepatic glucose production, promote glycogen synthesis, stimulate lipogenesis, and inhibit lipolysis and protein degradation. Beyond its metabolic roles, insulin has important functions in cell growth, proliferation, and neuroprotection.

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.

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.