PCNA Chromosome 20

Proliferating cell nuclear antigen

1 variant 1 Health Risk

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What This Gene Does

The protein encoded by this gene is found in the nucleus and is a cofactor of DNA polymerase delta. The encoded protein acts as a homotrimer and helps increase the processivity of leading strand synthesis during DNA replication. In response to DNA damage, this protein is ubiquitinated and is involved in the RAD6-dependent DNA repair pathway. Two transcript variants encoding the same protein have been found for this gene. Pseudogenes of this gene have been described on chromosome 4 and on the X chromosome. [provided by RefSeq, Jul 2008]

Associated Conditions (1)

Ataxia-telangiectasia-like disorder 2

Key Variants

RS1274412848

Likely pathogenic

Ataxia-telangiectasia-like disorder 2, Ataxia-telangiectasia-like disorder 2

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS1274412848	Health Risk	Likely pathogenic	Ataxia-telangiectasia-like disorder 2, Ataxia-telangiectasia-like disorder 2