機能Involved in pre-mRNA splicing. Required for U4/U6.U5 tri-snRNP formation.
関連疾患Defects in PRPF31 are the cause of retinitis pigmentosa type 11 (RP11) [MIM:600138]. RP leads to degeneration of retinal photoreceptor cells. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP11 inheritance is autosomal dominant.
配列類似性Belongs to the PRP31 family. Contains 1 Nop domain.
ドメインInteracts with the snRNP via the Nop domain. The coiled coil domain is formed by two non-contiguous helices.
細胞内局在Nucleus speckle. Nucleus > Cajal body. Predominantly found in speckles and in Cajal bodies.