RFC2

Chr 7

replication factor C subunit 2

Also known as: RFC40

NCBI Gene: 5982 ENSG00000049541 UniProt: P35250

This gene encodes the 40 kD subunit of replication factor C (RFC), a protein complex that loads proliferating cell nuclear antigen (PCNA) onto DNA during replication by DNA polymerases delta and epsilon. Biallelic mutations cause severe combined immunodeficiency with microcephaly, growth restriction, and sensitivity to DNA-damaging agents, following autosomal recessive inheritance. The gene shows low constraint against loss-of-function variants, consistent with the recessive inheritance pattern observed clinically.

ResearchSummary from RefSeq, UniProt

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]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.98

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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