背景
This gene encodes a phosphoprotein containing six characteristic repeat motifs. The
encoded protein binds to the initiator element (Inr) and E-box element in promoters and
functions as a regulator of transcription. This locus, along with several other neighboring
genes, is deleted in Williams-Beuren syndrome. There are many closely related genes and
pseudogenes for this gene on chromosome 7. This gene also has pseudogenes on
chromosomes 9, 13, and 21. Alternatively spliced transcript variants encoding multiple
isoforms have been observed.
