F111A Rabbit Polyclonal Antibody

The protein encoded by this gene is cell-cycle regulated| and has nuclear localization. The C-terminal half of the protein shares homology with trypsin-like peptidases and it contains a PCNA-interacting peptide (PIP) box| that is necessary for its co-localization with proliferating cell nuclear antigen (PCNA). Reduced expression of this gene resulted in DNA replication defects| consistent with the demonstrated role for this gene in Simian Virus 40 (SV40) viral replication. Mutations in this gene have been associated with Kenny-Caffey syndrome (KCS) type 2 and the more severe osteocraniostenosis (OCS| also known as Gracile Bone Dysplasia)| both characterized by short stature| hypoparathyroidism| bone development abnormalities| and hypocalcemia. Alternative splicing results in multiple transcript variants.