SNRNP40
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
