RBM22

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Description

The RBM22 (RNA binding motif protein 22) is a protein-coding gene located on chromosome 5.

Pre-mRNA-splicing factor RBM22 is a protein that in humans is encoded by the RBM22 gene.

RBM22 is essential for pre-mRNA splicing as a component of the activated spliceosome. It plays a crucial role in the initial step of pre-mRNA splicing. RBM22 binds directly to the internal stem-loop (ISL) domain of the U6 snRNA and to the pre-mRNA intron near the 5' splice site during the activation and catalytic phases of the spliceosome cycle. RBM22 is involved in the translocation of the nuclear SLU7 to the cytoplasm and the cytosolic calcium-binding protein PDCD6 to the nucleus in response to cellular stress.

RBM22 is also known as Cwc2, ZC3H16, fSAP47.

Associated Diseases

• glioblastoma
• 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
• brachydactyly-syndactyly syndrome
• brachydactyly type A7
• polysyndactyly 4
• brachydactyly type B2