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Highest antigen sequence indentity to the following orthologs: Mouse (86%), Rat (86%).
This recombinant protein control fragment may be used for blocking experiments with the corresponding antibody, PA5-67013. In IHC/ICC and WB experiments, we recommend a 100x molar excess of the protein fragment control based on the concentration and the molecular weight. Pre-incubate the antibody-protein control fragment mixture for 30 min at room temperature.
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.
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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