Mouse Anti-CWF19L1 Recombinant Antibody (CBXC-1783) (CBMAB-C5440-CQ)

This product is a mouse antibody that recognizes CWF19L1. The antibody CBXC-1783 can be used for immunoassay techniques such as: WB, IP, IF, ELISA.
See all CWF19L1 antibodies

Datasheet

Summary

Host Animal

Mouse

Specificity

Human

Clone

CBXC-1783

Antibody Isotype

IgG

Application

WB, IP, IF, ELISA

Basic Information

Specificity

Human

Antibody Isotype

IgG

Application Notes

The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Storage

Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.

Target

Full Name

CWF19 Like 1, Cell Cycle Control (S. Pombe)

Introduction

CWF19L1 (CWF19 Like 1, Cell Cycle Control (S. Pombe)) is a Protein Coding gene. Diseases associated with CWF19L1 include Spinocerebellar Ataxia, Autosomal Recessive 17 and Autosomal Recessive Cerebellar Ataxia. An important paralog of this gene is CWF19L2.

Entrez Gene ID

55280

UniProt ID

Q69YN2

Alternative Names

CWF19 Like 1, Cell Cycle Control (S. Pombe); C19L1; CWF19-Like 1 Cell Cycle Control; CWF19-Like Protein 1; SCAR17; HDrn1;

Biological Process

mRNA splicing, via spliceosome Source: GO_Central

Cellular Location

Post-mRNA release spliceosomal complex

Involvement in disease

Spinocerebellar ataxia, autosomal recessive, 17 (SCAR17):
The disease is caused by variants affecting the gene represented in this entry. A disease-causing mutation has been reported that affects an intronic splice donor site and causes exon 9 skipping, this leads to an out-of-frame stop codon after 60 aberrant amino acids. Patients carrying this mutation exhibit much lower mRNA and protein levels compared to unaffected controls, probably due to mRNA nonsense-mediated decay (PubMed:25361784).
A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR17 features include non-progressive congenital cerebellar ataxia, mildly delayed walking with an unsteady gait and frequent falls, dysarthria, dysmetria, hypotonia in the extremities, truncal ataxia, increased reflexes in the lower extremities, and intellectual disability.

References

Algahtani, H., Shirah, B., Almatrafi, S., Al-Qahtani, M. H., Abdulkareem, A. A., & Naseer, M. I. (2021). A novel variant in CWF19L1 gene in a family with late-onset autosomal recessive cerebellar ataxia 17. Neurological Research, 43(2), 141-147.

Shi, J., Lv, S., Wu, M., Wang, X., Deng, Y., Li, Y., ... & Ye, M. (2020). HOTAIR‐EZH2 inhibitor AC1Q3QWB upregulates CWF19L1 and enhances cell cycle inhibition of CDK4/6 inhibitor palbociclib in glioma. Clinical and Translational Medicine, 10(1), 182-198.

Enderli, A., Heinrich, B., Joset, P., De Geyter, J., Scheer, J., & Plecko, B. (2017). Homozygous Splice Mutation in CWF19L1 in Two Brothers with Autosomal Recessive Cerebellar Ataxia. Neuropediatrics, 48(S 01), VS04.

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Protocols

Please try the standard protocols which include: protocols, troubleshooting and guide.

Enzyme-linked Immunosorbent Assay (ELISA)
Flow Cytometry
Immunofluorescence (IF)
Immunohistochemistry (IHC)
Immunoprecipitation (IP)
Western Blot (WB)
Enzyme Linked Immunospot (ELISpot)
Proteogenomic
Other Protocols

Associated Products

Isotype control

For research use only. Not intended for any clinical use.

Custom Antibody Labeling

We also offer labeled antibodies developed using our catalog antibody products and nonfluorescent conjugates (HRP, AP, Biotin, etc.) or fluorescent conjugates (Alexa Fluor, FITC, TRITC, Rhodamine, Texas Red, R-PE, APC, Qdot Probes, Pacific Dyes, etc.).

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