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CWF19L1 (CWF19 Like Cell Cycle Control Factor 1) is a gene located on chromosome 10 and encodes a protein involved in the regulation of mRNA splicing and cell cycle control. The protein interacts with key splicing factors within the nucleus, including components of the U5 small nuclear ribonucleoprotein (snRNP) and the pre-mRNA processing factor 19 (PRPF19) complex. CWF19L1 plays a crucial role in the alternative splicing of immune-related genes, thereby influencing the expression levels of cytotoxic molecules and enhancing T-cell cytotoxicity. Pathogenic variants in CWF19L1 have been linked to a rare autosomal recessive form of hereditary ataxia known as SCAR17 (Spinocerebellar Ataxia, Autosomal Recessive 17), characterized by symptoms such as global developmental delay, cerebellar ataxia, pyramidal signs, and seizures. This gene's deficiency disrupts normal mRNA splicing and leads to significant alterations in gene expression, impacting cellular and neurological functions.
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Protein Aliases: C19L1; CWF19-like 1 cell cycle control; CWF19-like protein 1
Gene Aliases: 2610528C06Rik; AI854304; AV336991; C19L1; CWF19L1; hDrn1; SCAR17
UniProt ID: (Human) Q69YN2, (Mouse) Q8CI33
Entrez Gene ID: (Human) 55280, (Rat) 365465, (Mouse) 72502
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