Disease-gene associations mined from literature

Literature associating AKT3 and Bardet-Biedl syndrome 16

AKT3 [ENSP00000263826]

V-akt murine thymoma viral oncogene homolog 3; AKT3 is one of 3 closely related serine/threonine- protein kinases (AKT1, AKT2 and AKT3) called the AKT kinase, and which regulate many processes including metabolism, proliferation, cell survival, growth and angiogenesis. This is mediated through serine and/or threonine phosphorylation of a range of downstream substrates. Over 100 substrate candidates have been reported so far, but for most of them, no isoform specificity has been reported. AKT3 is the least studied AKT isoform. It plays an important role in brain development and is crucial for the viability of malignant glioma cells. AKT3 isoform may also be the key molecule in up-regulation and down-regulation of MMP13 via IL13. Required for the coordination of mitochondrial biogenesis with growth factor-induced increases in cellular energy demands. Down-regulation by RNA interference reduces the expression of the phosphorylated form of BAD, resulting in the induction of caspase- dependent apoptosis; Pleckstrin homology domain containing

Synonyms:  AKT3,  AKT3p,  hAKT3,  Q9Y243,  PKBG ...

Linkouts:  STRING  Pharos  UniProt  OMIM