DISEASES

Disease-gene associations mined from literature

Literature associating CWC22 and meningeal melanocytoma

CWC22 [ENSP00000387006]

Pre-mRNA-splicing factor CWC22 homolog; Required for pre-mRNA splicing as component of the spliceosome (PubMed:12226669, PubMed:11991638, PubMed:22961380, PubMed:28502770, PubMed:28076346, PubMed:29360106, PubMed:29301961). Promotes exon-junction complex (EJC) assembly (PubMed:22959432, PubMed:22961380). Hinders EIF4A3 from non-specifically binding RNA and escorts it to the splicing machinery to promote EJC assembly on mature mRNAs. Through its role in EJC assembly, required for nonsense-mediated mRNA decay. ECO:0000269|PubMed:22959432, ECO:0000269|PubMed:22961380, ECO:0000269|PubMed:23236153, ECO:0000269|PubMed:28076346, ECO:0000269|PubMed:28502770, ECO:0000269|PubMed:29301961,; Belongs to the CWC22 family.

Synonyms:  CWC22,  CWC22p,  hCWC22,  B7WP74,  Q9HCG8 ...

Linkouts:  STRING  Pharos  UniProt  OMIM