Literature DB >> 24039187

The AKT genes and their roles in various disorders.

M Michael Cohen1.   

Abstract

AKT (AK mouse plus Transforming or Thymoma) is a common oncogene expressed in most tissues. Both AKT2 and AKT3, although important, have more limited distributions. The regulation of all three genes depends on two receptors-a receptor tyrosine kinase with a growth factor ligand, and a G protein coupled receptor, also with a ligand together with an explanation of how their downsteam components function. AKT2 is amplified or overexpressed in cancer with a higher frequency than those found with AKT1. AKT1 is cardioprotective to the heart by supporting its physiological growth and function. AKT2 is closely linked to Type II diabetes and the implications of various types of mutations are discussed. Various AKT3 mutations are important in neurological disorders, such as microcephaly, hemimegalencephaly, and megalencephaly syndromes. Finally, a reduced level of AKT1 in the frontal cortex has been found during post-mortem brain studies of schizophrenic patients in the populations of many countries.
© 2013 Wiley Periodicals, Inc.

Entities:  

Keywords:  AKT1; AKT2; AKT3; G protein coupled receptor; PTEN; RAS; cellular functions of AKT effectors; mTORC2; phosphatydlinositol 3 kinase and 3 kinase gamma; phosphatydlinositol 4,5 bisphosphate and 3,4,5 trisphosphate; receptor tyrosine kinase

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Year:  2013        PMID: 24039187     DOI: 10.1002/ajmg.a.36101

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


  35 in total

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