Home
>
Product
>
Antibody
>
Rabbit Anti-SNRNP200/FITC Conjugated antibody
background:
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. [provided by RefSeq, Mar 2010]
Function:
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.
Subcellular Location:
Nucleus.
Tissue Specificity:
Widely expressed.
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.
Similarity:
Belongs to the helicase family. SKI2 subfamily.
Contains 2 helicase ATP-binding domains.
Contains 2 helicase SLCterminal domains.
Contains 2 SEC63 domains.
Database links:
Entrez Gene: 23020 Human
Entrez Gene: 64632 Mouse
Entrez Gene: 296126 Rat
Omim: 601664 Human
SwissProt: O75643 Human
SwissProt: Q6P4T2 Mouse
SwissProt: F1LNJ2 Rat
Unigene: 246112 Human
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
|
|