RFC1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human RFC1 wild-type allele is located in the vicinity of 4p14 and is approximately 79 kb in length. This allele, which encodes replication factor C subunit 1 protein, plays a role in DNA replication and transcriptional regulation. Repeat expansion mutations in the gene are associated with cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS).

**Synonyms:** - A1 - Activator 1, 140-kD Subunit Gene - CANVAS - MHC Binding Factor, Beta Gene - MHCBFB - PO-GA - RECC1 - RFC - RFC, 140 kD Subunit Gene - RFC, 140-kD Subunit Gene - RFC140 - Replication Factor C (Activator 1) 1 (145kD) Gene - Replication Factor C (Activator 1) 1, 145kDa Gene - Replication Factor C 140-kD Subunit Gene - Replication Factor C Subunit 1 wt Allele - Replication Factor C, Subunit 1 Gene