2020年11月25日 · 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.

2022年8月29日 · 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 ...

2024年12月25日 · 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.

2024年9月23日 · Highly abnormal rotatory chair test of a genetically confirmed RFC1-CANVAS patient. Almost all CANVAS patients should look like this. CANVAS is an easy to remember acronym for cerebellar ataxia (the CA), neuropathy (N), and vestibular areflexia (VA) syndrome.

2021年6月22日 · 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 ...

2024年5月1日 · Here, we review the various motifs, genetic variants, and phenotypes associated with the RFC1 gene. We searched PubMed for scientific articles published between March 1st, 2019, and January 15th, 2024.

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.

2020年11月25日 · Clinical characteristics: The phenotypic spectrum associated with biallelic RFC1 AAGGG repeat expansion encompasses a range including (1) typical cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS); (2) cerebellar, sensory, and vestibular impairment; (3) more limited phenotypes involving predominantly or exclusively one of the ...

2024年5月20日 · 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.

Replication factor C (RFC) family is a complex comprised of the RFC1, RFC2, RFC3, RFC4, and RFC5 subunits, which acts as a primer recognition factor for DNA polymerase. It is reported that RFC, biologically active in various malignant tumors, may ...