Cat Eye Syndrome Chromosome Region, Candidate 1 (CECR1)

CECR1 encodes a member of a subfamily of the adenosine deaminase protein family. The encoded protein may act as a growth factor and have adenosine deaminase activity. It may be responsible for some of the phenotypic features associated with cat eye syndrome. Two transcript variants encoding distinct isoforms have been identified for this gene.The deduced protein contains 511 amino acids and shows sequence similarity to insect and mollusk growth factors.Highest expression was in adult heart, lung, lymphoblasts, spleen, and placenta, as well as in fetal lung, liver, and kidney. Expression was weaker in adult pancreas, skeletal muscle, and liver, and faint in adult and fetal brain. In situ hybridization of a 35-day human embryo detected CECR1 mRNA in the outflow tract and atrium of the heart, the VII/VIII cranial nerve ganglion, the notochord, and the placenta.