Aliases for RFC2 Gene
External Ids for RFC2 Gene
Previous GeneCards Identifiers for RFC2 Gene
This gene encodes a member of the activator 1 small subunits family. The elongation of primed DNA templates by DNA polymerase delta and epsilon requires the action of the accessory proteins, proliferating cell nuclear antigen (PCNA) and replication factor C (RFC). Replication factor C, also called activator 1, is a protein complex consisting of five distinct subunits. This gene encodes the 40 kD subunit, which has been shown to be responsible for binding ATP and may help promote cell survival. Disruption of this gene is associated with Williams syndrome. Alternatively spliced transcript variants encoding distinct isoforms have been described. A pseudogene of this gene has been defined on chromosome 2. [provided by RefSeq, Jul 2013]
GeneCards Summary for RFC2 Gene
RFC2 (Replication Factor C Subunit 2) is a Protein Coding gene. Diseases associated with RFC2 include Williams-Beuren Syndrome and Blepharophimosis, Epicanthus Inversus, And Ptosis, Type 1. Among its related pathways are Mismatch repair and DNA Double-Strand Break Repair. GO annotations related to this gene include magnesium chelatase activity and DNA clamp loader activity.
UniProtKB/Swiss-Prot for RFC2 Gene
The elongation of primed DNA templates by DNA polymerase delta and epsilon requires the action of the accessory proteins proliferating cell nuclear antigen (PCNA) and activator 1. This subunit binds ATP (By similarity).