CECR6 Activators

CECR6, also known as Cat Eye Syndrome Chromosome Region Candidate 6, is a protein that, in humans, is encoded by the CECR6 gene. The precise biological role of CECR6 remains largely uncharacterized, but it is believed to be involved in certain immune and developmental processes based on its gene expression patterns and protein domain structure.

CECR6 is named after its association with a region of chromosome 22 that is implicated in Cat Eye Syndrome (CES), a rare chromosomal disorder that can cause ocular, renal, and cardiac anomalies, among other developmental issues. Despite its name, CECR6's direct link to the phenotypic manifestations of CES is not fully established. However, the study of genes in this region, including CECR6, may provide insights into the complex genetic contributions to the syndrome.The protein structure of CECR6 includes a nuclear localization signal, suggesting that it may localize to the nucleus and play a role in gene regulation or other nuclear processes. Proteins with such signals are often involved in the regulation of transcription, DNA repair, and replication. Furthermore, the expression profile of CECR6, which includes tissues of the immune system, hints at a possible function in immune cell differentiation or response.