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INSRA gene on chromosome 19p13.3-p13.2 that encodes insulin receptor, the binding of insulin to which stimulates glucose uptake.
Defects of INSR cause Rabson-Mendenhall syndrome, leprechaunism and hyperinsulinaemic hypoglycaemia type 5.
insulin receptorA heterodimeric membrane receptor composed of α and
β chains, which has tyrosine kinase activity after binding insulin; IR deficiency is a rare cause of DM and may be due to a gene rearrangement, causing a deletion in the tyrosine kinase domain, a point mutation with a loss of the ATP binding site or other genetic defect