RNU4-1
Chr 12RNA, U4 small nuclear 1
Also known as: RNU4A, RNU4B2, U4, U4BL
This gene encodes U4 small nuclear RNA, a key component of the spliceosome that binds U6 snRNA and participates in the assembly of the U4/U6 x U5 tri-snRNP complex required for pre-mRNA splicing. Mutations cause microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR), an autosomal recessive disorder characterized by severe intellectual disability, microcephaly, and variable features including retinal dystrophy and lymphedema with onset in infancy. This represents one of the few known human diseases caused by defects in core spliceosomal machinery.
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
RNU4-1 · protein map & ClinVar variants
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3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
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External Resources
Links to major genomics databases and tools