Cortactin Binding Protein 2 (CTTNBP2)

CTTNBP2 encodes a protein with six ankyrin repeats and several proline-rich regions. A similar gene in rat interacts with a central regulator of the actin cytoskeleton.CTTNBP2 encodes a deduced 1,663-amino acid protein containing 6 ankyrin repeats and several proline-rich regions that are likely to interact with the SH3 domain of cortactin.  Northern blot analysis detected a 6-kb CTTNBP2 transcript in multiple human tissues, with highest expression in brain, kidney, and pancreas. A brain-specific Northern blot revealed expression in all subsections examined.Cheung et al. (2001) screened the CTTNBP2 gene for mutations in 90 unrelated individuals with autism from multiplex families and identified 2 variants. Comparison of allele frequencies in autistic and control populations showed no significant differences.