Features include: Strabismus, Seizure, Abnormally large globe, and Single transverse palmar crease and 44 more.

ATR encodes ATR checkpoint kinase (2,644 aa). Serine/threonine protein kinase which activates checkpoint signaling upon genotoxic stresses such as ionizing radiation (IR), ultraviolet light (UV), or DNA replication stalling, thereby acting as a DNA damage sensor. Highest expression in Adrenal Gland (15.7 TPM) and Cells Cultured fibroblasts (14.3 TPM).

Seckel syndrome 1 is associated with mutations in the ATR gene on chromosome 3.

ATR is classified as a druggable target (Clinically Actionable, Dna Repair, Druggable Genome, Enzyme, Kinase, Phosphatidylinositol 3 Kinase, and Serine Threonine Kinase categories) with score 3.3.

Genetic testing for ATR is available. Testing is considered confirmatory for diagnosis.

1 clinical trial registered. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

1 publication has been identified in PubMed for Seckel syndrome 1. Research spans Basic Science / Preclinical (100%).

Recent Publications

• Marx C (2025). [PMID: 40105243](https://pubmed.ncbi.nlm.nih.gov/40105243/). *Nucleic acids research*. [Basic Science / Preclinical]