Anti-PRPF8 antibody [2834C1a] (ab51366)

Function

Central component of the spliceosome, which may play a role in aligning the pre-mRNA 5'- and 3'-exons for ligation. Interacts with U5 snRNA, and with pre-mRNA 5'-splice sites in B spliceosomes and 3'-splice sites in C spliceosomes.

Tissue specificity

Widely expressed.

Involvement in disease

Defects in PRPF8 are the cause of retinitis pigmentosa type 13 (RP13) [MIM:600059]. 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. RP13 inheritance is autosomal dominant.

Sequence similarities

Contains 1 MPN (JAB/Mov34) domain.

Domain

The MPN domain has structural similarity with viral ribonucleases and RNase H, but unlike RNases, it does not bind any metal ions.

Post-translational
modifications

Phosphorylated upon DNA damage, probably by ATM or ATR.

Cellular localization

Nucleus speckle.

Alternative names

Database links