
The protein encoded by this gene belongs the PI3/PI4-kinase family, and is most closely related to ATM, a protein kinase encoded by the gene mutated in ataxia telangiectasia. This protein and ATM share similarity with Schizosaccharomyces pombe rad3, a cell cycle checkpoint gene required for cell cycle arrest and DNA damage repair in response to DNA damage. This kinase has been shown to phosphorylate checkpoint kinase CHK1, checkpoint proteins RAD17, and RAD9, as well as tumor suppressor protein BRCA1. Mutations of this gene are associated with Seckel syndrome. An alternatively spliced transcript variant of this gene has been reported, however, its full length nature is not known. Transcript variants utilizing alternative polyA sites exist.

V roku 2007 získali Nobelovu cenu za fyziológiu alebo medicínu Mario R. Capecchi (USA), Sir Martin E...
Čítať viac
Trh s farmaceutickymi a biologickymi liekmi ponuka siroku skalu pripravkov urcenych na liecbu mnohyc...
Čítať viac
S oteplovanim pocasia rastie aj riziko prisatia kliestov. Tieto drobne pavukovce prenasaju mnoho roz...
Čítať viac