RNU12
Chr 22ARRNA, U12 small nuclear
RNU12 encodes the U12 small nuclear RNA component of the U12 snRNP complex, which is essential for splicing of U12-type introns in pre-mRNA processing. Mutations cause autosomal recessive spinocerebellar ataxia 33 and CDAGS syndrome (craniosynostosis, delayed closure of fontanelles, cranial defects, clavicular hypoplasia, anal defects, and skin eruption). Both conditions follow autosomal recessive inheritance and involve neurological dysfunction along with additional developmental abnormalities in CDAGS syndrome.
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Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
RNU12 · protein map & ClinVar variants
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3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
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