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Ataxia Telangiectasia and Rad3-Related (ATR)

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Encyclopedia of Signaling Molecules
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Synonyms

FCTCS (cutaneous telangiectasia and cancer syndrome, familial); FRP1 (FRAP-related protein-1); MEC1 (mitosis entry checkpoint 1); SCKL1 (Seckel syndrome1)

Homologs

Saccharomyces pombe – Rad3

Saccharomyces cerevisiae – Mec1p

Drosophila melanogaster – Mei-41

Historical Background

Ataxia Telangiectasia and Rad3-related (ATR) or FRAP-related protein-1 (FRP1) is a 2644 amino acid protein kinase, located on chromosome 3q23 (Cimprich et al. 1996), which has 10 alternatively transcribed variants. ATR belongs to the PIKK (phosphatidylinositol 3-kinase related kinase) family of kinases (reviewed in Kidiyoor et al. 2016). Hypomorphic mutations in the ATR gene are associated with a rare autosomal recessive disorder, Seckel syndrome (OMIM #210600), characterized by intrauterine growth retardation, dwarfism, microcephaly, and mental retardation (Ogi et al. 2012); with cutaneous telangiectasia; mild developmental anomalies of hair, teeth, and nails; and a predisposition to cancer,...

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References

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Correspondence to Amit Kumar .

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Awasthi, P., Yadav, V.K., Dixit, M., Kumar, A. (2017). Ataxia Telangiectasia and Rad3-Related (ATR). In: Choi, S. (eds) Encyclopedia of Signaling Molecules. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6438-9_101789-1

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  • DOI: https://doi.org/10.1007/978-1-4614-6438-9_101789-1

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