The AKT genes and their roles in various disorders

Résultat de recherche: Articleexamen par les pairs

84 Citations (Scopus)

Résumé

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.

Langue d'origineEnglish
Pages (de-à)2931-2937
Nombre de pages7
JournalAmerican Journal of Medical Genetics, Part A
Volume161
Numéro de publication12
DOI
Statut de publicationPublished - déc. 2013

ASJC Scopus Subject Areas

  • Genetics
  • Genetics(clinical)

PubMed: MeSH publication types

  • Journal Article
  • Review

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