SNRNP40

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Description

The SNRNP40 (small nuclear ribonucleoprotein U5 subunit 40) is a protein-coding gene located on chromosome 1.

SNRNP40 is essential for pre-mRNA splicing as a component of the activated spliceosome. It is part of the U5 small nuclear ribonucleoprotein (snRNP) complex and the U4/U6-U5 tri-snRNP complex, both crucial for spliceosome assembly. SNRNP40 also participates in the minor spliceosome, likely involved in the splicing of U12-type introns within pre-mRNAs.

SNRNP40 is also known as 40K, HPRP8BP, PRP8BP, PRPF8BP, SPF38, WDR57.

Associated Diseases

• Griscelli syndrome type 3
• isolated agammaglobulinemia
• common variable immunodeficiency
• T-B+ severe combined immunodeficiency due to JAK3 deficiency
• severe combined immunodeficiency due to IKK2 deficiency
• severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• combined immunodeficiency due to ZAP70 deficiency
• immunodeficiency 72 with autoinflammation
• severe combined immunodeficiency due to DCLRE1C deficiency
• severe combined immunodeficiency due to LAT deficiency
• uncombable hair syndrome
• severe combined immunodeficiency due to CTPS1 deficiency
• oculocutaneous albinism type 3