Insuliinireseptorin oma geeni INSR ( kromosomi 19p13.2)

 Tuoreimmat  PubMed uutiset insuliinireseptorista itsestä. Etsin tietoa siitä, miten  globaali humaani  reseptori jaksaa nykyään.  (Tämän kannalta olisi toivottavaa, että ihmiset  solmisivat avionsa  nuorina ja tosiaan hankkisivat toivon mukaan  runsaan jälkikasvunsa  kohtalaisen nuorina ja pyrkisivät tietysti kaikin tavoin raittiiseen ja savuttomaan elämäntapaan).

Also known as

HHF5; CD220

Summary

This gene encodes a member of the receptor tyrosine kinase family of proteins. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that form a heterotetrameric receptor. Binding of insulin or other ligands to this receptor activates the insulin signaling pathway, which regulates glucose uptake and release, as well as the synthesis and storage of carbohydrates, lipids and protein. 

Mutations in this gene underlie the inherited severe insulin resistance syndromes including type A insulin resistance syndrome, Donohue syndrome and Rabson-Mendenhall syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]

Related articles in PubMed

1. First molecular diagnosis of Donohue syndrome in Africa: novel unusual insertion/deletion mutation in the INSR gene. Siala-Sahnoun O, et al. Mol Biol Rep, 2016 Mar. PMID 26874853
2. Single-Nucleotide Polymorphism on Exon 17 of Insulin Receptor Gene Influences Insulin Resistance in PCOS: A Pilot Study on North Indian Women. Gangopadhyay S, et al. Biochem Genet, 2016 Apr. PMID 26721804
3. Quantification of insulin receptor mRNA splice variants as a diagnostic tumor marker in breast cancer. Aljada A, et al. Cancer Biomark, 2015. PMID 26406954 Cancer Survey cDNA array demonstrated lower levels of IR-B mRNA in breast adenocarcinoma, liver carcinoma and lung carcinoma only while IR-A expression was significantly altered in kidney carcinoma without any significant differences in IR-A:IR-B ratios.

1. Intrinsic Resistance to Cixutumumab Is Conferred by Distinct Isoforms of the Insulin Receptor. Forest A, et al. Mol Cancer Res, 2015 Dec. PMID 26263910,
2. Association of genetic variants in INS (rs689), INSR (rs1799816) and PP1G.G (rs1799999) with type 2 diabetes (T2D): a case-control study in three ethnic groups from North-West India. Sokhi J, et al. Mol Genet Genomics, 2016 Feb. PMID 26251103

See all (562) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene
 

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

1. C1008T SNP at exon 17 of INSR is associated with insulin resistance in Indian women with polycystic ovarian syndrome.
2. A novel insertion/deletion (indel) mutation was found in INSR gene.
3. mTORC2 promotes rapamycin- and ligand-induced type I insulin-like growth factor receptor / insulin receptor phosphorylation.
4. Study provides evidence that IR, irrespective of isoform type, mediates primary resistance to IGF-IR-targeted therapy and can be used as a potential biomarker for patient selection.
5. remarkable therapeutic window observed for BI 885578 is achieved by virtue of the distinctive pharmacokinetic properties of the compound capitalizing on the physiologic mechanism of glucose homeostasis and differential levels of IGF1R and INSR expression
6. Given the limited number of patients treated with KW-2450 in our study, it is not possible to make a meaningful comparison of efficacy with other IGF-1R/IR dual kinases inhibitors
7. Data indicate that a highly specific qRT-PCR assay to quantify levels of the insulin-like growth factor receptor and insulin receptor isoforms (IR-A, IR-B, and IGF-1R) on the same scale to provide a critical diagnostic and predictive tool.
8. Low-oxygen tension can modify the IGF-1 or IGF-2 signaling via the IGF-1R and IR in placental mesenchymal stem cells.
9. The results demonstrate an increased IR-A:IR-B ratio in all clinical stages of breast cancer
10. only Ptprj was co-expressed with the IR in major insulin target tissues : the skeletal muscle, liver and adipose tissue. the activation of IR and Akt by insulin was enhanced, and glucose and insulin tolerance was improved in Ptprj-deficient mice