DISEASES

Disease-gene associations mined from literature

Literature associating YJU2 and neuronal ceroid lipofuscinosis 6A

YJU2 [ENSP00000262962]

Splicing factor YJU2; Part of the spliceosome which catalyzes two sequential transesterification reactions, first the excision of the non-coding intron from pre-mRNA and then the ligation of the coding exons to form the mature mRNA . Plays a role in stabilizing the structure of the spliceosome catalytic core and docking of the branch helix into the active site, producing 5'-exon and lariat intron-3'- intermediates (By similarity). May protect cells from TP53-dependent apoptosis upon dsDNA break damage through association with PRP19-CD5L complex ; Belongs to the CWC16 family. YJU2 subfamily.

Synonyms:  YJU2,  YJU2p,  hYJU2,  M0R2S3,  Q9BW85 ...

Linkouts:  STRING  Pharos  UniProt