RNU5D-1
Chr 1RNA, U5D small nuclear 1
Also known as: RNU5D, U5DL, U5DS
RNU5D-1 encodes a component of the U5 small nuclear ribonucleoprotein (snRNP) that is essential for spliceosome assembly and pre-mRNA splicing. Mutations cause autosomal recessive microcephalic osteodysplastic primordial dwarfism type I (MOPD1), characterized by severe prenatal and postnatal growth restriction, microcephaly, and skeletal abnormalities with early lethality typically in infancy.
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
RNU5D-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
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External Resources
Links to major genomics databases and tools