Protein Domain : Cat eye syndrome critical region protein 6 IPR026624

Type  Family
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 [].
Short Name  CECR6

0 Child Features

0 Gene Families

0 Genes

0 Ontology Annotations

1 Parent Features

0 Publications

USDA
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