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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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Cat eye syndrome critical region protein 6; Transmembrane protein 121B
基因别名: CECR6; TMEM121B
UniProt ID: (Human) Q9BXQ6
Entrez Gene ID: (Human) 27439