Cat Eye Syndrome Chromosome Region, Candidate 5 (CECR5)

This hypothetical equivalog is a member of the Class IIA subfamily of the haloacid dehalogenase superfamily of aspartate-nucleophile hydrolases. The sequences modelled by this equivalog are all eukaryotes. CECR5 has been cloned from a pericentromere region of human chromosome 22 believed to be the location of the gene or genes responsible for Cat Eye Syndrome. This is one of a number of candidate genes. The Schizosaccharomyces pombe sequence is annotated as "phosphatidyl synthase," however this is due entirely to a C-terminal region of the protein which is highly homologous to a family of CDP-alcohol phosphatidyltransferases. The physical connection of the phosphatidyl synthase and the HAD-superfamily hydrolase domain in S. pombe may, however, be an important clue to the substrate for the hydrolases in this equivalog.