RNU6ATAC
Chr 9RNA, U6atac small nuclear
Also known as: RNU6ATAC1, U6ATAC
This gene encodes U6atac snRNA, a component of the minor spliceosome that recognizes specific splice sites and assembles into the U6atac snRNP complex for processing a subset of pre-mRNA transcripts. Mutations cause microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1), a severe autosomal recessive disorder characterized by intrauterine growth restriction, profound microcephaly, skeletal dysplasia, and early lethality. MOPD1 affects multiple organ systems with onset in utero and represents one of the most severe forms of primordial dwarfism.
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
RNU6ATAC · 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