RCC1

Chr 1AR

regulator of chromosome condensation 1

Also known as: CHC1, IIAAN, RCC1-I

NCBI Gene: 1104 ENSG00000180198 UniProt: P18754 OMIM: 179710

This protein functions as a guanine-nucleotide exchange factor that promotes RAN-GTP formation, playing a critical role in nuclear import and mitotic spindle assembly. Mutations cause autosomal recessive infection-induced acute-onset axonal neuropathy. The gene is highly constrained against loss-of-function variants (pLI=0.93, LOEUF=0.36), reflecting its essential cellular functions.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

Enables several functions, including guanyl-nucleotide exchange factor activity; nucleosomal DNA binding activity; and protein heterodimerization activity. Involved in G1/S transition of mitotic cell cycle; regulation of cell cycle process; and spindle organization. Located in chromatin; cytoplasm; and nuclear lumen. Part of protein-containing complex. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Infection-induced acute-onset axonal neuropathyMIM #621333

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.36

LOEUF

LOF

Mechanism· G2P