DISEASES

Disease-gene associations mined from literature

Literature associating SNRNP200 and retinitis pigmentosa

SNRNP200 [ENSP00000317123]

Activating signal cointegrator 1 complex subunit 3-like 1; RNA helicase that plays an essential role in pre-mRNA splicing as component of the U5 snRNP and U4/U6-U5 tri-snRNP complexes. Involved in spliceosome assembly, activation and disassembly. Mediates changes in the dynamic network of RNA-RNA interactions in the spliceosome. Catalyzes the ATP-dependent unwinding of U4/U6 RNA duplices, an essential step in the assembly of a catalytically active spliceosome.

Synonyms:  SNRNP200,  LOC101929240,  A2RRQ7,  A4FU77,  ASCC3L1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM