| Primary Identifier | IPR026624 | Type | Family |
| Short Name | CECR6 |
| description | This entry represents the human Cat eye syndrome critical region protein 6 (also known as transmembrane protein 121B) and its homologues [, ]. Cat Eye Syndrome (CES) is characterised clinically by the combination of coloboma of the iris and anal atresia with fistula. CES is a rare condition caused by the duplication of a 2 Mb region of human 22q11.2 resulting in four copies of the region rather than the usual two copies []. |
