cat eye syndrome critical region protein 2 (CECR2, KIAA1740)

Function

• component of CERF complex
• interacts with LRPPRC

Structure

• contains 1 bromo domain

Alternative splicing

named isoforms=3

Expression

• expressed in skeletal muscle, thymus, placenta, lung > brain, heart, colon, spleen, kidney

Pathology

• candidate gene for the Cat Eye Syndrome

More general terms

• cat eye syndrome critical region protein (CECR)
• protein subunit

Additional terms

• cat-eye syndrome

Component of

• CECR2-containing-remodeling factor (CERF) complex

Database

• OMIM: https://mirror.omim.org/entry/607576
• UniProt: http://www.uniprot.org/uniprot/Q9BXF3.html