CECR1 Activators

CECR1, or Cat Eye Syndrome Chromosome Region, Candidate 1, is a protein encoded by the CECR1 gene in humans. It's also known as Adenosine Deaminase 2 (ADA2).CECR1 functions as a growth factor and an enzyme with adenosine deaminase activity, which catalyzes the conversion of adenosine to inosine, a critical process in purine metabolism. It is secreted by cells and promotes growth and differentiation, particularly impacting blood vessels' development and function.Significantly, CECR1 is associated with a rare, inherited inflammatory condition known as ADA2 deficiency or Deficiency of Adenosine Deaminase 2 (DADA2). DADA2 often exhibit recurrent fevers, systemic inflammation, and vasculopathy. This can lead to manifestations like stroke, livedo racemosa (a mottled skin discoloration due to vascular changes), and immune dysregulation.

Mutations in the CECR1 gene leading to a lack of functional ADA2 protein are responsible for DADA2. ADA2 is predominantly secreted by monocytes and macrophages, and its deficiency can lead to endothelial damage and increased inflammation due to an imbalance in immune responses.Moreover, CECR1 is being investigated in the context of other disorders too. It has been implicated in systemic lupus erythematosus and polyarteritis nodosa, further highlighting its role in immune response and vascular health.In summary, CECR1 is a critical protein involved in purine metabolism, immune response, and vascular development and function.