ATR

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ATR

A gene on chromosome 3q22-q24 that encodes a protein belonging to the PI3/PI4-kinase family, which is closely related to ATM, the protein kinase encoded by the gene mutated in ataxia telangiectasia. ATR is similar to the cell cycle checkpoint gene required for cell cycle arrest and DNA damage repair in response to DNA damage; it phosphorylates checkpoint kinase CHK1 and checkpoint proteins RAD17 and RAD9, as well as tumour suppressor protein BRCA1.

Molecular pathology
ATR mutations cause Seckel syndrome.

ATR

Achilles tendon reflex, see Ankle reflex.
References in periodicals archive ?
O que justifica maior investigacao diante de outros casos em que e detectada a presenca da SCKL.
Neste estudo foram observadas manifestacoes fonoaudiologicas nas areas da motricidade orofacial, fala e voz, todavia estas nao podem ser generalizadas para todos os casos com SCKL, principalmente pela gama de alteracoes que essa sindrome pode apresentar, e devido ao estudo ter sido realizado apenas com um individuo.