MitoProteome Database

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MT000974

UniProt Annotations

Entry Information

Gene Name	cat eye syndrome chromosome region, candidate 5
Protein Entry	CECR5_HUMAN
UniProt ID	Q9BXW7
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=2; Name=2; IsoId=Q9BXW7-1; Sequence=Displayed; Name=1; IsoId=Q9BXW7-2; Sequence=VSP_003840;
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	Widely expressed.