Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Insulin receptor

The gene INSR encodes the insulin receptor, which is responsible for insulin's inreacellular metabolic actions. Depending on the nature of the mutation different diseases ensue. Insulin resitance is autosomal dominant, while Donohue syndrome (Leprechaunism) and Rabson-Mendenhall syndrome are autosomal recessive.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Hyperinsulinemic hypoglycemia 5
INSR
Leprechaunism
INSR
Rabson-Mendenhall syndrome
INSR
Diabetes mellitus with insulin resistance and acanthosis nigricans
INSR

References:

1.

RABSON SM et al. (1956) Familial hypertrophy of pineal body, hyperplasia of adrenal cortex and diabetes mellitus; report of 3 cases.

[^]
2.

Moller DE et al. (1990) Functional properties of a naturally occurring Trp1200----Ser1200 mutation of the insulin receptor.

[^]
3.

Shimada F et al. (1990) Insulin-resistant diabetes associated with partial deletion of insulin-receptor gene.

[^]
4.

Kadowaki T et al. (1990) Substitution of lysine for asparagine at position 15 in the alpha-subunit of the human insulin receptor. A mutation that impairs transport of receptors to the cell surface and decreases the affinity of insulin binding.

[^]
5.

Yamamoto-Honda R et al. (1990) Phosphorylation state and biological function of a mutant human insulin receptor Val996.

[^]
6.

Moller DE et al. (1988) Detection of an alteration in the insulin-receptor gene in a patient with insulin resistance, acanthosis nigricans, and the polycystic ovary syndrome (type A insulin resistance).

[^]
7.

Klinkhamer MP et al. (1989) A leucine-to-proline mutation in the insulin receptor in a family with insulin resistance.

[^]
8.

Taira M et al. (1989) Human diabetes associated with a deletion of the tyrosine kinase domain of the insulin receptor.

[^]
9.

Odawara M et al. (1989) Human diabetes associated with a mutation in the tyrosine kinase domain of the insulin receptor.

[^]
10.

Accili D et al. (1989) A mutation in the insulin receptor gene that impairs transport of the receptor to the plasma membrane and causes insulin-resistant diabetes.

[^]
11.

Kahn CR et al. (1989) Molecular defects in insulin action.

[^]
12.

Kadowaki T et al. (1988) Two mutant alleles of the insulin receptor gene in a patient with extreme insulin resistance.

[^]
13.

Ebina Y et al. (1985) The human insulin receptor cDNA: the structural basis for hormone-activated transmembrane signalling.

[^]
14.

Lander ES et al. (1987) Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children.

[^]
15.

Kahn CR et al. (1988) The insulin receptor and the molecular mechanism of insulin action.

[^]
16.

Yoshimasa Y et al. (1988) Insulin-resistant diabetes due to a point mutation that prevents insulin proreceptor processing.

[^]
17.

Kakehi T et al. (1988) Defective processing of insulin-receptor precursor in cultured lymphocytes from a patient with extreme insulin resistance.

[^]
18.

Grigorescu F et al. (1986) Characterization of binding and phosphorylation defects of erythrocyte insulin receptors in the type A syndrome of insulin resistance.

[^]
19.

Moncada VY et al. (1986) Insulin-receptor biosynthesis in cultured lymphocytes from an insulin-resistant patient (Rabson-Mendenhall syndrome). Evidence for defect before insertion of receptor into plasma membrane.

[^]
20.

Barnes ND et al. (1974) Insulin resistance, skin changes, and virilization: a recessively inherited syndrome possibly due to pineal gland dysfunction.

[^]
21.

Taylor SI et al. (1983) Decreased insulin binding to cultured cells from a patient with the Rabson-Mendenhall syndrome: dichotomy between studies with cultured lymphocytes and cultured fibroblasts.

[^]
22.

Okamoto H et al. (2003) In vivo mutagenesis of the insulin receptor.

[^]
23.

Orphanet article

Orphanet ID 122664 [^]
24.

NCBI article

NCBI 3643 [^]
25.

OMIM.ORG article

Omim 147670 [^]
26.

Wikipedia article

Wikipedia EN (Insulin_receptor) [^]
Update: April 29, 2019