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Pre-mRNA splicing is catalyzed by the spliceosome, a complex of specialized RNA and protein subunits that removes introns from a transcribed pre-mRNA segment. Additionally we are shipping and many more products for this protein.
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Results show that SNW1 (show SNW1 Antibodies) directly associates with EFTUD2 (show EFTUD2 Antibodies) and SNRNP200 and that disruption of SNW1 (show SNW1 Antibodies) association with these proteins promotes the apoptosis of breast cancer cells.
Our data suggest that BRR2 is an important factor in 5'-splice-site recognition and that the retinitis pigmentosa linked mutations c.3260C>T (p.S1087L) and c.3269G>T (p.R1090L) affect this BRR2 function.
Mutations in SNRNP200 cause 1.6% of autosomal dominant retinitis pigmentosa.
we evaluated the mutation profile in 24 exons containing the hotspots in SNRNP200 among a cohort of southern Han Chinese retinitis pigmentosa patients and controls. A total of 18 novel variants were detected.
differential human cell culture splicing and cell cycle defect models due to perturbed levels of human U5 snRNP (show LSM2 Antibodies) associated U5-200kD RNA helicase (show DDX46 Antibodies)
these data show how a Ski2 (show SKIV2L Antibodies)-like RNA helicase (show DDX46 Antibodies) Brr2 can be reversibly inhibited by a protein cofactor Prp8 (show PRPF8 Antibodies) that directly competes with RNA substrate binding.
A novel missense SNRNP200 mutation associated with autosomal dominant retinitis pigmentosa in a Chinese family.
results reveal the structural and functional interplay between two helicase cassettes in a tandem superfamily 2 enzyme and point to several sites through which Brr2 activity may be regulated
4 new missense changes (p.R681C, p.R681H, p.V683L, p.Y689C) affecting highly conserved codons were identified in 6 unrelated individuals, indicating that the prevalence of SNRNP200-associated autosomal dominant retinitis pigmentosa is relatively high.
A novel locus for RP33 has been assigned to chromosomal region 2cen-q12.1, which in a Chinese kindred is associated with a relatively late onset form of retinitis pigmentosa.
Pre-mRNA splicing is catalyzed by the spliceosome, a complex of specialized RNA and protein subunits that removes introns from a transcribed pre-mRNA segment. The spliceosome consists of small nuclear RNA proteins (snRNPs) U1, U2, U4, U5 and U6, together with approximately 80 conserved proteins. U5 snRNP contains nine specific proteins. This gene encodes one of the U5 snRNP-specific proteins. This protein belongs to the DEXH-box family of putative RNA helicases. It is a core component of U4\\/U6-U5 snRNPs and appears to catalyze an ATP-dependent unwinding of U4\\/U6 RNA duplices. Mutations in this gene cause autosomal-dominant retinitis pigmentosa. Alternatively spliced transcript variants encoding different isoforms have been found, but the full-length nature of these variants has not been determined.
, U5 small nuclear ribonucleoprotein 200 kDa helicase
, U5 snRNP-specific 200 kDa protein
, activating signal cointegrator 1 complex subunit 3-like 1