Cat eye syndrome chromosome region, candidate 9 (CECR9)

CECR9 is a putative gene located within the critical region of chromosome 22 (22q11.2) implicated in cat eye syndrome, a rare chromosomal disorder characterized by complex developmental anomalies including ocular, anal, cardiac, and renal defects[3][7]. CECR9 was originally identified as a novel transcript through comparative genomics; its exact biological function, if any, remains unknown, and it is classified as an RNA gene with no protein product or established molecular activity[1][3]. It has been mapped to the same locus as several other candidate genes in studies investigating the genetic basis for the cat eye syndrome phenotype, but there is no evidence to directly implicate CECR9 in disease pathogenesis, therapeutic intervention, or drug interaction[3]. There appear to be no established drugs, mechanisms, or biomarkers associated with CECR9, and its role remains restricted to its positional association with the critical region for cat eye syndrome[1][3][7].

Other names

Putative cat eye syndrome critical region protein 9CECR9