Name: Anti-CLCN1 Antibody (CAB5739)
Brand: Signal Transduction Antibodies 3
SKU: CAB5739
Availability: OutOfStock

Antibody Name:	Anti-CLCN1 Antibody
Antibody SKU:	CAB5739
Antibody Size:	20uL, 50uL, 100uL
Application:	WB
Reactivity:	Human, Mouse
Host Species:	Rabbit
Immunogen:	Recombinant fusion protein containing a sequence corresponding to amino acids 779-988 of human CLCN1 (NP_000074.2).

Application:	WB
Recommended Dilution:	WB 1:500 - 1:2000
Reactivity:	Human, Mouse
Positive Samples:	293T, Mouse liver

Immunogen:	Recombinant fusion protein containing a sequence corresponding to amino acids 779-988 of human CLCN1 (NP_000074.2).
Purification Method:	Affinity purification
Storage Buffer:	Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Isotype:	IgG
Sequence:	ARPT KKKT TQDS TDLV DNMS PEEI EAWE QEQL SQPV CFDS CCID QSPF QLVE QTTL HKTH TLFS LLGL HLAY VTSM GKLR GVLA LEEL QKAI EGHT KSGV QLRP PLAS FRNT TSTR KSTG APPS SAEN WNLP EDRP GATG TGDV IAAS PETP VPSP SPEP PLSL APGK VEGE LEEL ELVE SPGL EEEL ADIL QGPS LRST DEED EDEL IL
Gene ID:	1180
Uniprot:	P35523
Cellular Location:	Membrane, Multi-pass membrane protein
Calculated MW:	108kDa
Observed MW:	109kDa

Synonyms:

CLCN1, CLC1

Background:

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 electric excitability of the skeletal muscle membrane. Mutations in this gene cause two forms of inherited human muscle disorders: recessive generalized myotonia congenita (Becker) and dominant myotonia (Thomsen). Alternative splicing results in multiple transcript variants.

UniProt Protein Function:	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.
UniProt Protein Details:	Protein type:Membrane protein, integral; Transporter; Channel, chloride; Membrane protein, multi-pass; Transporter, ion channel 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
NCBI Summary:	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 electric excitability of the skeletal muscle membrane. Mutations in this gene cause two forms of inherited human muscle disorders: recessive generalized myotonia congenita (Becker) and dominant myotonia (Thomsen). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]
UniProt Code:	P35523
NCBI GenInfo Identifier:	311033468
NCBI Gene ID:	1180
NCBI Accession:	P35523.3
UniProt Secondary Accession:	P35523,Q2M202, A4D2H5,
UniProt Related Accession:	P35523
Molecular Weight:	988
NCBI Full Name:	Chloride channel protein 1
NCBI Synonym Full Names:	chloride channel, voltage-sensitive 1
NCBI Official Symbol:	CLCN1
NCBI Official Synonym Symbols:	CLC1
NCBI Protein Information:	chloride channel protein 1; clC-1; chloride channel 1, skeletal muscle; chloride channel protein, skeletal muscle
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 Entry Name:	CLCN1_HUMAN

Western blot analysis of extracts of various cell lines, using CLCN1 antibody (CAB5739) at 1:1000 dilution. Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) (CABS014) at 1:10000 dilution. Lysates/proteins: 25ug per lane. Blocking buffer: 3% nonfat dry milk in TBST. Detection: ECL Basic Kit (RM00020). Exposure time: 90s.

Antibodies

CLCN1 Antibody (PACO08453)

Secondary Antibody

Anti-HRP Goat Anti-Rabbit IgG (H+L) Antibody (CABS014)