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
