RNU5F-1

Chr 1

RNA, U5F small nuclear 1

Also known as: RNU5F, U5F

NCBI Gene: 26828ENSG00000199377OMIM: 620363

RNU5F-1 encodes a component of the U5 small nuclear ribonucleoprotein (snRNP) that is essential for pre-mRNA splicing through formation of the spliceosomal tri-snRNP complex. Mutations in this gene cause autosomal recessive microcephalic osteodysplastic primordial dwarfism type I, characterized by severe growth restriction, microcephaly, and skeletal abnormalities with onset in early development.

OMIMResearchSummary from RefSeq
Clinical Summary— RNU5F-1
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Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

RNU5F-1 · protein map & ClinVar variants

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3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

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External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients