RNU6ATAC

Chr 9

RNA, U6atac small nuclear

Also known as: MEJINS, 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.

ResearchSummary from RefSeq

Predicted to enable U4atac snRNA binding activity and pre-mRNA 5'-splice site binding activity. Predicted to be involved in mRNA 5'-splice site recognition and spliceosomal tri-snRNP complex assembly. Predicted to be part of U6atac snRNP. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

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Mechanism

Some data sources returned errors (1)