CLCN1 Human Protein

Name: CLCN1 Protein; Human; MyBioSource
Brand: MyBioSource
SKU: MBS1882957
Price: 1320 USD
Availability: InStock
Rating: 5 (10 reviews)

For Research Use Only. Not for use in diagnostic procedures. Catalog #: MBS1882957

The CLCN family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics while sharing significant sequence homology. The protein encoded by this gene regulates the… More details

$1320 / 0.01 mg +1 FREE 8GB USB

Product Documentation

Sample Manual Insert View PDF

Testing Data View PDF

Certificate of Analysis (COA) View PDF

QC Report View PDF

Material Safety Data Sheet View PDF

Technical Datasheet View PDF

Protocol View PDF

Product Overview

Online Datasheet in PDF

Product Name

CLCN1, Protein

Full Product Name

Human CLCN1 full length protein-synthetic nanodisc

Product Gene Name

CLCN1 protein

Product Synonym Names

CLC1

Host

HEK293

Form/Format

Lyophilized from nanodisc solubilization buffer (20 mM Tris-HCl, 150 mM NaCl, pH 8.0). Normally 5%-8% trehalose is added as protectants before lyophilization. Please see Certificate of Analysis for specific instructions. Do not use solvents with pH lower

Preparation and Storage

Store at -20 degree C to -80 degree C for 12 months in lyophilized form. After reconstitution, if not intended for use within a month, aliquot and store at -80 degree C (Avoid repeated freezing and thawing). Lyophilized proteins are shipped at ambient temperature.

Molecular Weight

108,626 Da

Chromosome Location

Chromosome: 7; NC_000007.13 (143013219..143049097). Location: 7q35

OMIM

118425

3D Structure

ModBase 3D Structure for P35523

Tag

C-DYKDDDDK

Product Categories/Family for CLCN1 protein

Full Length Transmembrane Proteins; Ion Channels: Other

Other Notes

Small volumes of CLCN1 protein 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.

Searchable Terms for CLCN1 purchase

MBS1882957 is a protein targeting CLCN1. Also known as Human CLCN1 full length protein-synthetic nanodisc. Host: HEK293.

Additional Details

NCBI/Uniprot data below describe general gene information for CLCN1. It may not necessarily be applicable to this product.

NCBI GI #

119433677

NCBI GeneID

1180

NCBI Accession #

NP_000074.2

UniProt Primary Accession #

P35523

UniProt Secondary Accession #

Q2M202; A4D2H5

UniProt Related Accession #

P35523

GenBank Nucleotide #

NM_000083.2

NCBI Official Full Name

chloride channel protein 1

NCBI Official Synonym Full Names

chloride channel, voltage-sensitive 1

NCBI Official Symbol

CLCN1

NCBI Official Synonym Symbols

CLC1

UniProt Protein Name

Chloride channel protein 1

UniProt Synonym Protein Names

Chloride channel protein, skeletal muscle

Protein Family

Chloride channel protein

UniProt Gene Name

CLCN1

UniProt Synonym Gene Names

CLC1; ClC-1

UniProt Entry Name

CLCN1_HUMAN

NCBI Protein Information

chloride channel protein 1; clC-1; chloride channel 1, skeletal muscle; chloride channel protein, skeletal muscle

UniProt Comments for CLCN1

CLCN1: Voltage-gated chloride channel. Chloride channels have several functions including the regulation of cell volume; membrane potential stabilization, signal transduction and transepithelial transport. Defects in CLCN1 are the cause of Thomsen disease (THD); also known as autosomal dominant myotonia congenita (MCD). THD is characterized by skeletal muscle stiffness (delayed relaxation), due to membrane hyperexcitability. A variant form of Thomsen disease is myotonia levior that is characterized by milder symptoms, later onset and absence of muscle hypo- and hypertrophy. Defects in CLCN1 are the cause of autosomal recessive myotonia congenita (MCR); also known as Becker disease. Belongs to the chloride channel (TC 2.A.49) family. ClC-1/CLCN1 subfamily.

Protein type: Channel, chloride; Transporter, ion channel; Membrane protein, multi-pass; Transporter; Membrane protein, integral

Chromosomal Location of Human Ortholog: 7q35

Cellular Component: integral to plasma membrane; plasma membrane; sarcolemma

Molecular Function: chloride channel activity; voltage-gated chloride channel activity

Biological Process: muscle contraction; transport; action potential propagation; transmembrane transport

Disease: Myotonia Congenita, Autosomal Recessive; Myotonia Congenita, Autosomal Dominant

Research Articles on CLCN1

1. Our findings predict a dramatic reduction of the muscle fibre resting chloride conductance and thus fully explain the disease-causing effects of mutations C277R and C277Y of CLC1 in myotonia congenita

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.

Product Note

Select online data sheet information is drawn from bioinformatics databases, occasionally resulting in ambiguous or non-relevant product information. It is the responsibility of the customer to review, verify, and evaluate the information to make sure it matches their requirements before purchasing the kit. Our ELISA Kit assays are dynamic research tools and sometimes they may be updated and improved. If the format of this assay is important to you then please request the current manual or contact our technical support team with a presales inquiry before placing an order. We will confirm the current details of the assay. We cannot guarantee the sample manual posted online is the most current manual, it is intended to serve as an example only. Please refer to the instructions For Use provided with the assay kit for precise details.

Product PubMed Publications

Products associated with CLCN1 protein

Reference Product	PubMed Publications
SCN4A protein	>23 publications with CLCN1 and SCN4A
MBNL1 protein	>9 publications with CLCN1 and MBNL1
DMPK protein	>7 publications with CLCN1 and DMPK
CNBP protein	>4 publications with CLCN1 and CNBP
CELF1 protein	>1 publications with CLCN1 and CELF1

Pathways associated with CLCN1 protein

Products by Pathway	Pathway Diagram
Ion Channel Transport Pathway antibodies	Ion Channel Transport Pathway Diagram
Stimuli-sensing Channels Pathway antibodies	Stimuli-sensing Channels Pathway Diagram
Transmembrane Transport Of Small Molecules Pathway antibodies	Transmembrane Transport Of Small Molecules Pathway Diagram

Diseases associated with CLCN1 protein

Disease Name	Pubmed Publications
Myotonia Congenita, Autosomal Recessive Antibodies	>82 publications with CLCN1 and Myotonia Congenita, Autosomal Recessive
MYOTONIA CONGENITA, AUTOSOMAL DOMINANT Antibodies	>82 publications with CLCN1 and MYOTONIA CONGENITA, AUTOSOMAL DOMINANT
Myotonia Congenita Antibodies	>82 publications with CLCN1 and Myotonia Congenita
Hypertrophy Antibodies	>16 publications with CLCN1 and Hypertrophy
Pain Antibodies	>9 publications with CLCN1 and Pain
Cardiovascular Diseases Antibodies	>3 publications with CLCN1 and Cardiovascular Diseases
Heart Diseases Antibodies	>2 publications with CLCN1 and Heart Diseases
Kidney Diseases Antibodies	>2 publications with CLCN1 and Kidney Diseases
Nephrocalcinosis Antibodies	>1 publications with CLCN1 and Nephrocalcinosis

Organs/Tissues associated with CLCN1 protein

Organ/Tissue Name	Pubmed Publications
Muscle Antibodies	>113 publications with CLCN1 and Muscle