RFC4

Chr 3q27.3

replication factor C subunit 4

Aliases:: A1, RFC37
MANE:: ENST00000296273.7

OMIM: 102577 ↗NCBI: 5984 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

RFC4 · P35249

v62025-08-01

Predicted Aligned Error matrix for RFC4 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

82.1/ 100

Confident

363 residues

Confidence breakdown

Very high(≥ 90)43%
Confident(70–90)42%
Low(50–70)6%
Very low(< 50)10%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Congenital myopathy
BIALLELIC, autosomal or pseudoautosomal
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Morimoto-Ryu-Malicdan neuromuscular syndrome
0.53
congenital myopathy with cores
0.37
congenital myopathy
0.37
Sensorineural hearing impairment
0.37
sensorineural hearing loss disorder
0.37
alcohol drinking
0.18
urolithiasis
0.18
diabetes mellitus
0.13
neoplasm
0.11
cancer
0.09

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Replication factor C subunit 4

Subunit of the replication factor C (RFC) complex which acts during elongation of primed DNA templates by DNA polymerases delta and epsilon, and is necessary for ATP-dependent loading of proliferating cell nuclear antigen (PCNA) onto primed DNA. The RFC4 subunit probably functions as a scaffold on which the other complex components can assemble