HDHD5 Antibody / Haloacid dehalogenase-like hydrolase domain-containing 5

Haloacid dehalogenase-like hydrolase domain-containing 5 (HDHD5), also called Cat eye syndrome critical region protein 5 (CECR5), is a candidate gene for the Cat Eye Syndrome (CES), a developmental disorder associated with the duplication of a 2 Mb region of 22q11.2. Duplication usually takes in the form of a surpernumerary bisatellited isodicentric chromosome, resulting in four copies of the region (represents an inv dup22 (q11) ) . CES is characterized clinically by the combination of coloboma of the iris and anal atresia with fistula, downslanting palpebral fissures, preauricular tags and/or pits, frequent occurrence of heart and renal malformations, and normal or near-normal mental development. [UniProt]