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The AKT genes and their roles in various disorders
Author(s) -
Cohen M. Michael
Publication year - 2013
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36101
Subject(s) - akt3 , akt1 , akt2 , biology , protein kinase b , gas6 , microcephaly , gene , receptor tyrosine kinase , pdgfra , cancer research , receptor , genetics , phosphorylation , gist , stromal cell
AKT ( AK mouse plus T ransforming or T hymoma) 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.