Recombinant Human Replication factor C subunit 2 (RFC2)

Uniprot Id

P35250

Target Species

Human

Target Name

RFC2

Target Full Name

Replication factor C subunit 2

Target Function

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.

Target Involvement

RFC2 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region (PubMed:11003705).

Target Subcellular Location

Nucleus.

Target Protein Families

Activator 1 small subunits family

Target Synonyms

A1 40 kDa subunit; A1; Activator 1 40 kDa subunit; Activator 1; Activator 1 subunit 2; MGC3665; OTTHUMP00000160645; OTTHUMP00000160646; Replication factor C (activator 1) 2 40kDa; Replication factor C (activator 1) 2; Replication factor C 2; Replication factor C 40 kDa subunit; Replication factor C subunit 2; RF C 40 kDa subunit; RF-C 40 kDa subunit; RFC 2; RFC 40; RFC 40 kDa subunit; RFC2; RFC2_HUMAN; RFC40

Target Background

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.