Structural highlights
Disease
RFC2_HUMAN Williams syndrome. 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).[1]
Function
RFC2_HUMAN 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).
References
- ↑ Martindale DW, Wilson MD, Wang D, Burke RD, Chen X, Duronio V, Koop BF. Comparative genomic sequence analysis of the Williams syndrome region (LIMK1-RFC2) of human chromosome 7q11.23. Mamm Genome. 2000 Oct;11(10):890-8. PMID:11003705
