Gene
RFC1
replication factor C subunit 1
- HGNC 9969(opens in a new tab)
- Ensembl gene ENSG00000035928(opens in a new tab)
- NCBI Gene 5981(opens in a new tab)
Summary
- Cytogenetic location
- 4p14
- Coordinates
- Chromosome 4: 39,287,456–39,366,362 (GRCh38)
- Exons
- 25 exons across 78.9 kb
- Protein
- 1,147 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- A1, PO-GA, RFC140, MHCBFB
- MANE Select transcript
- ENST00000349703.7NM_002913.5
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome TestCurated reports relevant to this gene
Hereditary Sensory and Autonomic Neuropathies (incl. Familial Dysautonomia)
- Hereditary Sensory and Autonomic Neuropathy
A group of neuropathies, including familial dysautonomia (ELP1), HSAN1 (SPTLC1/SPTLC2), HSAN2 (WNK1, RETREG1) and congenital insensitivity to pain (NTRK1, SCN9A, PRDM12), most of which are recessive while HSAN1 is dominant.
- ClinGen rates the link definitive
- 3 GenCC submitters rate it definitive or strong
What knowing changes
Protection against unnoticed injuries, burns and infections, management of autonomic symptoms, and carrier testing for relatives (familial dysautonomia is included in Ashkenazi Jewish carrier screening).
Broader groupings
Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)
- Autosomal Recessive Cerebellar AtaxiaAutosomal recessive
One of 57 genes linked to it
A group of recessively inherited ataxias caused by biallelic variants in genes such as RFC1, FXN, SACS, TTPA, SETX, APTX, PNKP, ANO10 and SYNE1.
- ClinGen rates the link definitive
- 3 GenCC submitters rate it definitive or strong
What knowing changes
Ataxia with vitamin E deficiency (TTPA) is treatable with vitamin E supplements; other forms are managed with physiotherapy and symptom care, and relatives can be offered carrier testing.
Inheritance
- Autosomal recessive
- It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.
How RFC1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 4.9 kb of the gene's 78.9 kb; 3,444 of those bases code for the protein.
How a genome test reads RFC1
3
positions in RFC1 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 78.9 kb of RFC1, introns included, not only the 4.9 kb of exons.
Traits linked to RFC1
The Human Phenotype Ontology lists these as features of the rare conditions RFC1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Ataxia
- Axonal loss
- Decreased distal sensory nerve action potential
- Inability to coordinate movements when walking
- Peripheral neuropathy
- Cerebellar vermis atrophy
- Degeneration of cerebellum
- Difficulty articulating speech
Show 17 more traits
- Limb ataxia
- Abnormal rapid eye movement sleep
- Absent reflexes
- Babinski sign
- Decreased reflex response
- Delayed speech and language development
- Demyelinating peripheral neuropathy
- Difficulty performing quick and alternating movements
- Impaired pain sensation
- Impaired vibratory sensation
- Intention tremor
- Lack of coordination of movement
- Nerve damage causing decreased feeling and movement
- Progressive cerebellar ataxia
- Abnormal autonomic nervous system physiology
- Balance impairment
- Positive Romberg sign
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). RFC1 gene: replication factor C subunit 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/rfc1
Dante Labs. RFC1 gene: replication factor C subunit 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/rfc1
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