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Target intelligence / Profile preview
Small Nuclear Ribonucleoprotein U5 Subunit 200 (SNRNP200)
- Target
- SNRNP200
- Molecular classification
- Helicase, RNA helicase, Ribonucleoprotein
01
Overview
SNRNP200 encodes a large RNA helicase that is a core component of the spliceosome complex, essential for pre-mRNA splicing. It catalyzes ATP-dependent unwinding of the U4/U6 RNA duplexes, a crucial step in assembling an active spliceosome. Mutations in SNRNP200 are linked to Retinitis Pigmentosa type 33 (RP33), an autosomal dominant retinal degenerative disease.
- Other names
- U5 small nuclear ribonucleoprotein 200 kDa helicaseASCC3L1BRR2HELIC2RP33U5-200KDhBrr2
02
Biological functions
Spliceosome assemblyPre-mRNA splicingRNA unwindingRegulation of gene expression
03
Disease associations
Retinitis Pigmentosa type 33 (RP33)Copy number variation syndromes at chromosome region 2q11.2
04
Safety considerations
Compromised helicase function can lead to defective splicingLoss-of-function affects photoreceptor development
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