Background
This gene is a member of the BORIS + CTCF gene family and encodes a transcriptional
regulator protein with 11 highly conserved zinc finger (ZF) domains. This nuclear protein is
able to use different combinations of the ZF domains to bind different DNA target sequences
and proteins. Depending upon the context of the site, the protein can bind a histone
acetyltransferase (HAT)-containing complex and function as a transcriptional activator or
bind a histone deacetylase (HDAC)-containing complex and function as a transcriptional
repressor. If the protein is bound to a transcriptional insulator element, it can block
communication between enhancers and upstream promoters, thereby regulating imprinted
expression. Mutations in this gene have been associated with invasive breast cancers,
prostate cancers, and Wilms' tumors. Alternatively spliced transcript variants encoding
different isoforms have been found for this gene.
