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CWC27

CWC27 (CWC27 Spliceosome Associated Protein Homolog) is a Protein Coding gene. Diseases associated with CWC27 include Retinitis Pigmentosa With Or Without Skeletal Anomalies and Retinitis Pigmentosa. Among its related pathways are Gene Expression and mRNA Splicing - Major Pathway. Gene Ontology (GO) annotations related to this gene include peptidyl-prolyl cis-trans isomerase activity. An important paralog of this gene is PPIL4.
Full Name
CWC27 Spliceosome Associated Protein Homolog
Function
As part of the spliceosome, plays a role in pre-mRNA splicing (PubMed:29360106).

Probable inactive PPIase with no peptidyl-prolyl cis-trans isomerase activity (PubMed:20676357).
Biological Process
mRNA splicing, via spliceosome Source: Reactome
Protein folding Source: InterPro
Protein peptidyl-prolyl isomerization Source: GO_Central
Cellular Location
Nucleus
Involvement in disease
Retinitis pigmentosa with or without skeletal anomalies (RPSKA):
An autosomal recessive disease characterized by retinal degeneration, brachydactyly, short stature, craniofacial dysmorphism, and neurologic defects. Retinal defects are consistent with retinitis pigmentosa in most patients. Neurologic manifestations include mild-to-moderate intellectual disability and psychomotor retardation.

Anti-CWC27 antibodies

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Target: CWC27
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBXC-2222
Application*: WB, IH
Target: CWC27
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBWJC-3467
Application*: IH
For Research Use Only. Not For Clinical Use.
(P): Predicted
* Abbreviations
IFImmunofluorescence
IHImmunohistochemistry
IPImmunoprecipitation
WBWestern Blot
EELISA
MMicroarray
CIChromatin Immunoprecipitation
FFlow Cytometry
FNFunction Assay
IDImmunodiffusion
RRadioimmunoassay
TCTissue Culture
GSGel Supershift
NNeutralization
BBlocking
AActivation
IInhibition
DDepletion
ESELISpot
DBDot Blot
MCMass Cytometry/CyTOF
CTCytotoxicity
SStimulation
AGAgonist
APApoptosis
IMImmunomicroscopy
BABioassay
CSCostimulation
EMElectron Microscopy
IEImmunoelectrophoresis
PAPeptide Array
ICImmunocytochemistry
PEPeptide ELISA
MDMeDIP
SHIn situ hybridization
IAEnzyme Immunoassay
SEsandwich ELISA
PLProximity Ligation Assay
ECELISA(Cap)
EDELISA(Det)
BIBioimaging
IOImmunoassay
LFLateral Flow Immunoassay
LALuminex Assay
CImmunohistochemistry-Frozen Sections
PImmunohistologyp-Paraffin Sections
ISIntracellular Staining for Flow Cytometry
MSElectrophoretic Mobility Shift Assay
RIRNA Binding Protein Immunoprecipitation (RIP)
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