CECR6 - Cat eye syndrome critical region protein 6 - human protein (Function)
 
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CECR6 »  Cat eye syndrome critical region protein 6
 
Gene name:  CECR6
Entry whose protein(s) existence is based on evidence at protein level
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GENE REF ISO

Function

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Note 
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.  
  • CuratedUniProtKB
 

Keywords

Technical term 
Reference proteome  definition   [KW-1185]
 

Further external links

GenomeRNAi: 27439
PRO: PR:Q9BXQ6