功能： caution:Product of a dubious gene prediction.,miscellaneous: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 dup(22)(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.,tissue specificity:Ubiquitously expressed with higher expression in heart.,
相關產品： RS0001,RS0002,YM3028,YM3029
細胞定位： Secreted .
組織表達： Ubiquitously expressed with higher expression in heart.
功能： caution:Product of a dubious gene prediction.,miscellaneous: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 dup(22)(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.,tissue specificity:Ubiquitously expressed with higher expression in heart.,
相關產品： RS0001,RS0002,YM3028,YM3029
細胞定位： Secreted .
組織表達： Ubiquitously expressed with higher expression in heart.
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