C9orf78
Description
The C9ORF78 (chromosome 9 open reading frame 78) is a protein-coding gene located on chromosome 9.
C9ORF78 plays a crucial role in pre-mRNA splicing by promoting the use of the upstream 3'-splice site at alternative NAGNAG splice sites, which are characterized by alternative acceptor motifs separated by a few nucleotides. It can also influence exon inclusion events. Furthermore, C9ORF78 participates in spliceosomal remodeling by displacing WBP4 from SNRNP200, potentially inhibiting SNRNP200 helicase activity. It binds to U5 snRNA and is essential for proper chromosome segregation. Notably, it is not required for splicing shelterin components.
C9ORF78 is also known as CSU2, HCA59, HSPC220, TLS1, bA409K20.3.
