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.
Calculated molecular weight
46 kDa
Purification method
Affinity Purification
Conjugate
Un-conjugated
Clonality
Monoclonal
Host species
Rabbit
Immunogen
A synthetic peptide of human CECR5
Observed molecular weight
46 kDa
Alias
CECR5
Cat Number: RMA01962
CECR5 Recombinant Rabbit mAb
Applications:
ICC/IFIPWB
Species Reactivity:
Human
$ 229
/ 50ul
In Stock
50ul100ul
Description
Product Features
Applications
ICC/IFIPWB
Uniprot
Q9BXW7
GeneID
27440
Isotype
IgG
Species Reactivity
Human
Background
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.