CWC22

---

Description

The CWC22 (CWC22 spliceosome associated protein homolog) is a protein-coding gene located on chromosome 2.

CWC22 is a protein required for pre-mRNA splicing as a component of the spliceosome. It plays a role in the splicing of U12-type introns in pre-mRNAs as part of the minor spliceosome. CWC22 promotes the assembly of the exon-junction complex (EJC) by preventing EIF4A3 from binding non-specifically to RNA and escorting it to the splicing machinery. This function is essential for nonsense-mediated mRNA decay. CWC22 is a component of the pre-catalytic spliceosome B and the catalytic spliceosome C complexes. It interacts with EIF4A3 and PRPF19 in an RNA-independent manner.

CWC22 is also known as EIF4GL, NCM, fSAPb.

Associated Diseases

• syndactyly type 4
• syndactyly type 5
• mesoaxial synostotic syndactyly with phalangeal reduction
• synpolydactyly type 1
• syndactyly type 1
• polydactyly of a triphalangeal thumb
• Meckel syndrome
• polydactyly, postaxial, type A1
• split-foot malformation-mesoaxial polydactyly syndrome
• symphalangism with multiple anomalies of hands and feet
• brachydactyly type C
• aphalangy-syndactyly-microcephaly syndrome
• brachydactyly type A2