Putative RNA helicase involved in the second step of RNA splicing. May promote one or more conformational changes in the dynamic network of RNA-RNA interactions in the spliceosome. Appears to catalyze an ATP-dependent unwinding of U4/U6 RNA duplices.
Involvement in disease
Defects in SNRNP200 are the cause of retinitis pigmentosa type 33 (RP33) [MIM:610359]. It is a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. 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.
SNRNP200 was immunoprecipitated from 1mg HeLa whole cell lysate using ab176715 at 6 μg/mg lysate (Lane 2), a rabbit anti-SNRNP200 antibody recognizing an upstream epitope (Lane 1) or control IgG (Lane 3). 20% of the Immunoprecipitate was loaded per lane and then immunobotted using ab176715 at 1.0 μg/ml.
Chemiluminescence with exposure time of 10 seconds.
Western blot - Anti-SNRNP200 antibody (ab176715)
All lanes : Anti-SNRNP200 antibody (ab176715) at 0.1 µg/ml
Lane 1 : HeLa whole cell lysate at 50 µg Lane 2 : HeLa whole cell lysate at 15 µg Lane 3 : 293T whole cell lysate at 50 µg Lane 4 : Jurkat whole cell lysate at 50 µg Lane 5 : NIH3T3 whole cell lysate at 50 µg