CWC27

Chr 5AR

CWC27 spliceosome associated cyclophilin

Also known as: NY-CO-10, RPSKA, SDCCAG-10, SDCCAG10

NCBI Gene: 10283 ENSG00000153015 UniProt: Q6UX04 OMIM: 617170

This protein functions as a component of both major and minor spliceosomes involved in pre-mRNA splicing, despite lacking active peptidyl-prolyl cis-trans isomerase activity. Biallelic mutations cause autosomal recessive retinitis pigmentosa with or without skeletal anomalies. The gene shows low constraint against loss-of-function variants, consistent with the recessive inheritance pattern observed clinically.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

Predicted to enable peptidyl-prolyl cis-trans isomerase activity. Predicted to be involved in protein folding. Located in nucleoplasm. Part of U2-type precatalytic spliceosome and catalytic step 2 spliceosome. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Retinitis pigmentosa with or without skeletal anomaliesMIM #250410

Clinical highlights

Gene-disease validity (ClinGen)

metaphyseal chondrodysplasia-retinitis pigmentosa syndrome · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.90

LOEUF

LOF

Mechanism· G2P