Nov 25, 2020 · The diagnosis of RFC1 CANVAS / spectrum disorder is established in a proband with suggestive findings and biallelic intronic AAGGG pentanucleotide expansions in RFC1 identified by molecular genetic testing that is targeted to detect these expansions.

Replication factor C is a DNA-dependent ATPase that is required for eukaryotic DNA replication and repair. The protein acts as an activator of DNA polymerases, binds to the 3' end of primers, and promotes coordinated synthesis of both strands. It also may have a role in telomere stability. [6] RFC1 has been shown to interact with:

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Dec 25, 2024 · RFC1 (Replication Factor C Subunit 1) is a Protein Coding gene. Diseases associated with RFC1 include Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome and Hereditary Late-Onset Parkinson Disease.

Aug 29, 2022 · RFC1 encodes the large subunit of replication factor C, a pentameric DNA polymerase accessory protein involved in DNA replication and repair. 1 The RFC complex functions as a DNA-dependent ATPase that catalyzes the opening of the DNA-clamp protein proliferating cell nuclear antigen (PCNA), allowing it to encircle DNA and act as a scaffold to ...

Recently, biallelic intronic AAGGG repeat expansions in the replication factor complex subunit 1 (RFC1) gene were identified as the cause of cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) and a frequent cause of late onset ataxia. 14, 15 Notably, a sensory neuropathy/neuronopathy has been present in all the patients with ...

Gene ID: 5981, updated on 8-Feb-2025. This gene encodes the large subunit of replication factor C, a five subunit DNA polymerase accessory protein, which is a DNA-dependent ATPase required for eukaryotic DNA replication and repair.

Jun 22, 2021 · Biallelic RFC1 expansions were identified in 43 patients (34%) with sensory neuropathy and in none with sensory-motor neuropathy. Forty-two per cent of RFC1-positive patients had isolated sensory neuropathy or sensory neuropathy with chronic cough, while vestibular and/or cerebellar involvement, often subclinical, were identified at examination ...

Jan 4, 2025 · This gene encodes the large subunit of replication factor C, a five subunit DNA polymerase accessory protein, which is a DNA-dependent ATPase required for eukaryotic DNA replication and repair. The large subunit acts as an activator of DNA polymerases, binds to the 3' end of primers, and promotes coordinated synthesis of both strands.

Oct 31, 2024 · The RFC1 gene encodes the large subunit of replication factor C, a 5-subunit DNA polymerase accessory protein required for the coordinated synthesis of both DNA strands during replication or after DNA damage (summary by Cortese et al., 2019).