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LRRC8A cdna clone

Scan QR to view Datasheet Catalog #    MBS1275952 LRRC8A cdna clone
Unit / Price
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 Go to:   rightarrow  Product Names   rightarrow Product Info   rightarrow Accession #s   rightarrow Product Desc   rightarrow Diseases/Tissues/Pathways   rightarrow Applications   rightarrow References 
 Product Name   

LRRC8A, cDNA Clone

 Also Known As   

LRRC8A cDNA Clone

 Product Gene Name   

LRRC8A cdna clone

[Similar Products]
 Research Use Only    For Research Use Only. Not for use in diagnostic procedures.
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 MBS1275952 Technical Datasheet    Technical Datasheet PDF
 Molecular Biology Protocol    Molecular Biology Protocol
 Frequently Asked Questions    Frequently Asked Questions
 Sequence    Please Inquire
 OMIM    608360
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 Vector    Please Inquire
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 ISO Certification    Manufactured in an ISO 9001:2008 Certified Laboratory.
 Other Notes    Small volumes of LRRC8A cdna clone vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.
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NCBI/Uniprot data below describe general gene information for LRRC8A. It may not necessarily be applicable to this product.
 NCBI GI #    30410929
 NCBI GeneID    56262
 NCBI Accession #    BC051322 [Other Products]
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 UniProt Secondary Accession #    Q6UXM2; Q8NCI0; Q9P2B1 [Other Products]
 UniProt Related Accession #    Q8IWT6 [Other Products]
 Molecular Weight    94,199 Da
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 NCBI Official Full Name    Homo sapiens leucine rich repeat containing 8 family, member A, mRNA
 NCBI Official Synonym Full Names    leucine rich repeat containing 8 family member A
 NCBI Official Symbol    LRRC8A [Similar Products]
 NCBI Official Synonym Symbols   
AGM5; LRRC8; SWELL1
[Similar Products]
 NCBI Protein Information    volume-regulated anion channel subunit LRRC8A
 UniProt Protein Name    Volume-regulated anion channel subunit LRRC8A
 UniProt Synonym Protein Names   
Leucine-rich repeat-containing protein 8A; Swelling protein 1
 Protein Family    Volume-regulated anion channel
 UniProt Gene Name    LRRC8A [Similar Products]
 UniProt Synonym Gene Names    KIAA1437; LRRC8; SWELL1 [Similar Products]
 UniProt Entry Name    LRC8A_HUMAN
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 NCBI Summary for LRRC8A    This gene encodes a protein belonging to the leucine-rich repeat family of proteins, which are involved in diverse biological processes, including cell adhesion, cellular trafficking, and hormone-receptor interactions. This family member is a putative four-pass transmembrane protein that plays a role in B cell development. Defects in this gene cause autosomal dominant non-Bruton type agammaglobulinemia, an immunodeficiency disease resulting from defects in B cell maturation. Multiple alternatively spliced transcript variants, which encode the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008]
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 UniProt Comments for LRRC8A    LRRC8A: Involved in B-cell development. Required for the pro-B cell to pre-B cell transition. Defects in LRRC8A are the cause of agammaglobulinemia type 5 (AGM5). It is a primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life. A chromosomal aberration involving LRRC8 has been found in a patient with congenital agammaglobulinemia. Translocation t(9;20)(q33.2;q12). The translocation truncates the LRRC8 gene, resulting in deletion of the eighth, ninth, and half of the seventh LRR domains.

Protein type: Membrane protein, multi-pass; Membrane protein, integral

Chromosomal Location of Human Ortholog: 9q34.11

Cellular Component: cell surface; membrane; plasma membrane

Molecular Function: anion channel activity; protein binding; volume-sensitive anion channel activity

Biological Process: anion transport; cell volume homeostasis; pre-B cell differentiation; response to osmotic stress

Disease: Agammaglobulinemia 5, Autosomal Dominant
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 Research Articles on LRRC8A    1. Study identified SWELL1 (LRRC8A), a member of a four-transmembrane protein family with unknown function, as essential for hypotonicity-induced iodide influx. SWELL1 is localized to the plasma membrane, and its knockdown dramatically reduces endogenous volume-regulated anion channel currents and regulatory cell volume decrease in various cell types.
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 Precautions    All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
 Disclaimer    While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice.

It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
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Diseases associated with LRRC8A cdna cloneOrgans/Tissues associated with LRRC8A cdna clone
 Disease Name  Pubmed Publications
 Lung Neoplasms Antibodies  >1 publications with LRRC8A and Lung Neoplasms
 Neoplasms Antibodies  >1 publications with LRRC8A and Neoplasms
 Agammaglobulinemia Antibodies  >1 publications with LRRC8A and Agammaglobulinemia
 Organ/Tissue Name  Pubmed Publications
 Nerve Antibodies  >2 publications with LRRC8A and Nerve
 Blood Antibodies  >2 publications with LRRC8A and Blood
 Lung Antibodies  >2 publications with LRRC8A and Lung
 Lymph Node Antibodies  >1 publications with LRRC8A and Lymph Node
 Placenta Antibodies  >1 publications with LRRC8A and Placenta
 Embryonic Tissue Antibodies  >1 publications with LRRC8A and Embryonic Tissue
 Brain Antibodies  >1 publications with LRRC8A and Brain
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