Cat eye syndrome critical region protein 2 (CECR2)

Cat eye syndrome critical region protein 2 (CECR2) is a chromatin remodeling factor encoded within the critical region duplicated in Cat eye syndrome (CES), a rare congenital disorder most commonly involving the partial tetrasomy of human chromosome 22q11.1-q11.21[2][4][6]. The CECR2 gene plays a role in chromatin remodeling and gene expression during early development, and it is implicated in the formation of multiple organ systems. Mutations or increased dosage of CECR2 are associated with core CES features such as ocular coloboma, preauricular tags/pits, anal atresia, and congenital heart and kidney defects[1][2][4][6]. Studies in mouse models demonstrate that loss of function or altered copy number of Cecr2 recapitulates many CES clinical features, including eye, skeletal, heart, and kidney defects, supporting its candidacy as one of the main genes responsible for CES phenotypes[4][6]. The protein is also described to contribute to neurogenesis and inner ear development[6]. CECR2 is not an established therapeutic target such as a receptor, enzyme, or transporter, but rather a developmental regulator whose disruption or dosage alteration results in syndromic disease manifestations. There are currently no drugs known to specifically target CECR2, nor is it used as a biomarker or linked to specific drug mechanisms or safety concerns in current therapeutic contexts[1][2][4][6].

Other names

CECR2Cat eye syndrome chromosome region candidate 2Cat eye syndrome critical region gene 2 protein