Four of the five RFC genes (RFC1, RFC2, RFC3, and RFC4) have consensus ATP-binding motifs. The small RFC proteins, RFC2, RFC3, RFC4 and RFC5, interact with Rad24, whereas the RFC1 subunit does not. RFC2, the third-largest subunit of the RFC complex, exhibits ATP binding which makes it important for both DNA replication and checkpoint function. The human RFC2 gene maps to chromosome 7q11.23 and encodes the RFC2 subunit. RFC2 has been associated with Williams-Beuren syndrome, which is a rare multi-system developmental disorder caused by the deletion of contiguous genes at 7q11.23.
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