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Target intelligence / Profile preview
RNA, U12 small nuclear (RNU12)
- Target
- RNU12
- Molecular classification
- Non-coding RNA, Small nuclear RNA (snRNA), Component of minor (U12-dependent) spliceosome[1]
01
Overview
RNU12 encodes the U12 small nuclear RNA, a non-coding RNA that is an integral component of the minor (U12-dependent) spliceosome required for the recognition and removal of U12-type introns from pre-mRNA[1]. Proper function of the U12 snRNA is critical for splicing fidelity and normal development. Mutations in RNU12 can destabilize the RNA and result in disease by causing aberrant splicing and retention of U12-type introns, leading to disorders such as early-onset cerebellar ataxia and CDAGS syndrome[1]. Unlike canonical therapeutic targets (e.g., receptors, enzymes), RNU12 is not currently considered a direct drug target, but mutations in this gene act as diagnostic markers for certain rare genetic disorders.
- Other names
- RNU12-1RNA, U12 small nuclear 1CDAGSRNU12LRNU12PSCAR33dJ222E13.7
02
Biological functions
Pre-mRNA splicingRecognition and removal of U12-type intronsRegulation of splicing fidelityNegative regulation of neuron apoptotic process[1][2]
03
Disease associations
Autosomal recessive spinocerebellar ataxia 33 (SCAR33)CDAGS syndrome (craniosynostosis, anal anomalies, dermatoglyphics, growth retardation, and skeletal defects)[1]
04
Biomarkers
Mutations in RNU12 (e.g., 84C>U) as biomarkers for autosomal recessive spinocerebellar ataxia 33 and CDAGS syndrome[1]
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