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Immunogen sequence: PPPPPQGGSQL GHCISENEGG AHGYVNTLAV ASQN
Highest antigen sequence identity to the following orthologs - mouse 86%, rat 86%.
CECR6 is a protein associated with 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 dup(22)(q11)). CES is characterized clinically by the combination of coloboma of the iris and anal atresia with fistula, down-slanting palpebral fissures, preauricular tags and/or pits, frequent occurrence of heart and renal malformations, and normal or near-normal mental development.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: Cat eye syndrome critical region protein 6; Transmembrane protein 121B
Gene Aliases: CECR6; TMEM121B
UniProt ID: (Human) Q9BXQ6
Entrez Gene ID: (Human) 27439
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