人 RFC1 抗体对
01AB00378
Replication Factor C Subunit 1 (RFC1) is a crucial protein encoded by the RFC1 gene, which forms part of a pentameric complex essential for DNA replication and repair in eukaryotic cells. RFC1 functions primarily as a clamp loader, facilitating the loading of Proliferating Cell Nuclear Antigen (PCNA) onto DNA, thereby enhancing the activity of DNA polymerases during replication. Mutations in RFC1, specifically biallelic pentanucleotide repeat expansions in intron 2, are associated with cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS), a condition characterized by sensory neuropathy and cerebellar dysfunction. These expansions may also contribute to late-onset ataxia and other neurological disorders.
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技术参数
- 靶点基因名
- RFC1
- 基因别名
- RFC140
- 蛋白别名
- replication factor C subunit 1; RFC1
- UniProt
- P35251
- 物种
- Human
产品详情
- 靶点名称
- RFC1
- 蛋白名称
- replication factor C subunit 1
- 蛋白别名
- Replication factor C subunit 1; Activator 1 140 kDa subunit; A1 140 kDa subunit; Activator 1 large subunit; Activator 1 subunit 1; DNA-binding protein PO-GA; Replication factor C 140 kDa subunit; RF-C 140 kDa subunit; RFC140; Replication factor C large subunit
- 靶点基因名
- RFC1
- 基因别名
- RFC140
- UniProt
- P35251
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
Replication Factor C Subunit 1 (RFC1) is a crucial protein encoded by the RFC1 gene, which forms part of a pentameric complex essential for DNA replication and repair in eukaryotic cells. RFC1 functions primarily as a clamp loader, facilitating the loading of Proliferating Cell Nuclear Antigen (PCNA) onto DNA, thereby enhancing the activity of DNA polymerases during replication. Mutations in RFC1, specifically biallelic pentanucleotide repeat expansions in intron 2, are associated with cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS), a condition characterized by sensory neuropathy and cerebellar dysfunction. These expansions may also contribute to late-onset ataxia and other neurological disorders.