Gene: RFC1

Alternate names for this Gene: A1|CANVAS|MHCBFB|PO-GA|RECC1|RFC|RFC140

Gene Summary: 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. It may also have a role in telomere stability. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.

Gene is located in Chromosome: 4

Location in Chromosome : 4p14

Description of this Gene: replication factor C subunit 1

Type of Gene: protein-coding

rs2066790 in RFC1 gene and Body Height PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

rs6835111 in RFC1 gene and Finding of Mean Corpuscular Hemoglobin PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs6835111 in RFC1 gene and Mean Corpuscular Volume (result) PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.