RFC2 - replication factor C subunit 2 Gene

中文名称：复制因子 C 亚基 2

种属: Homo sapiens

同用名: RFC40

关于 RFC2

功能概要

该基因编码激活子 1 小亚基家族的成员。 DNA 聚合酶 delta 和 epsilon 对引物 DNA 模板的延伸需要辅助蛋白、增殖细胞核抗原 (PCNA) 和复制因子 C (RFC) 的作用。复制因子 C，也称为激活因子 1，是由五个不同的亚基组成的蛋白质复合物。该基因编码 40 kD 亚基，该亚基已被证明负责结合 ATP，可能有助于促进细胞存活。该基因的破坏与威廉姆斯综合症有关。已经描述了编码不同同种型的选择性剪接转录物变体。该基因的假基因已在 2 号染色体上定义。[RefSeq 提供，2013 年 7 月]

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]