Signal Transduction Antibodies 1

Anti-CLCN7 Antibody (CAB12422)

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SKU:
CAB12422
Product Type:
Antibody
Reactivity:
Human
Host Species:
Rabbit
Isotype:
IgG
Antibody Type:
Polyclonal Antibody
Research Area:
Signal Transduction

Description

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Antibody Name:Anti-CLCN7 Antibody
Antibody SKU:CAB12422
Antibody Size:20uL, 50uL, 100uL
Application:IF
Reactivity:Human
Host Species:Rabbit
Immunogen:Recombinant fusion protein containing a sequence corresponding to amino acids 626-805 of human CLCN7 (NP_001278.1).
Application:IF
Recommended Dilution:IF 1:50 - 1:100
Reactivity:Human
Positive Samples:
Immunogen:Recombinant fusion protein containing a sequence corresponding to amino acids 626-805 of human CLCN7 (NP_001278.1).
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:TARE VMST PVTC LRRR EKVG VIVD VLSD TASN HNGF PVVE HADD TQPA RLQG LILR SQLI VLLK HKVF VERS NLGL VQRR LRLK DFRD AYPR FPPI QSIH VSQD EREC TMDL SEFM NPSP YTVP QEAS LPRV FKLF RALG LRHL VVVD NRNQ VVGL VTRK DLAR YRLG KRGL EELS LAQT
Gene ID:1186
Uniprot:P51798
Cellular Location:Lysosome membrane, Multi-pass membrane protein
Calculated MW:86kDa/88kDa
Observed MW:
Synonyms:CLCN7, CLC-7, CLC7, OPTA2, OPTB4, PPP1R63
Background:The product of this gene belongs to the CLC chloride channel family of proteins. Chloride channels play important roles in the plasma membrane and in intracellular organelles. This gene encodes chloride channel 7. Defects in this gene are the cause of osteopetrosis autosomal recessive type 4 (OPTB4), also called infantile malignant osteopetrosis type 2 as well as the cause of autosomal dominant osteopetrosis type 2 (OPTA2), also called autosomal dominant Albers-Schonberg disease or marble disease autosoml dominant. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. OPTA2 is the most common form of osteopetrosis, occurring in adolescence or adulthood.
UniProt Protein Function:CLCN7: Slowly voltage-gated channel mediating the exchange of chloride ions against protons. Functions as antiporter and contributes to the acidification of the lysosome lumen. Defects in CLCN7 are the cause of osteopetrosis autosomal recessive type 4 (OPTB4); also known as infantile malignant osteopetrosis type 2. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. The disorder occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Defects in CLCN7 are the cause of osteopetrosis autosomal dominant type 2 (OPTA2); also known as autosomal dominant Albers-Schonberg disease or marble disease autosomal dominant. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. The disorder occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. OPTA2 is the most common form of osteopetrosis, occurring in adolescence or adulthood. It is characterized by sclerosis, predominantly involving the spine, the pelvis and the skull base. Belongs to the chloride channel (TC 2.A.49) family. ClC-7/CLCN7 subfamily.
UniProt Protein Details:

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

Chromosomal Location of Human Ortholog: 16p13

Cellular Component: membrane; lysosomal membrane; integral to membrane; cytoplasmic vesicle

Molecular Function:chloride channel activity; voltage-gated chloride channel activity; ATP binding; antiporter activity

Biological Process: transport; transmembrane transport; response to pH

Disease: Osteopetrosis, Autosomal Dominant 2; Osteopetrosis, Autosomal Recessive 4

NCBI Summary:The product of this gene belongs to the CLC chloride channel family of proteins. Chloride channels play important roles in the plasma membrane and in intracellular organelles. This gene encodes chloride channel 7. Defects in this gene are the cause of osteopetrosis autosomal recessive type 4 (OPTB4), also called infantile malignant osteopetrosis type 2 as well as the cause of autosomal dominant osteopetrosis type 2 (OPTA2), also called autosomal dominant Albers-Schonberg disease or marble disease autosoml dominant. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. OPTA2 is the most common form of osteopetrosis, occurring in adolescence or adulthood. [provided by RefSeq, Jul 2008]
UniProt Code:P51798
NCBI GenInfo Identifier:12644301
NCBI Gene ID:1186
NCBI Accession:P51798.2
UniProt Secondary Accession:P51798,Q9NYX5, A6NEJ7, A8K5T9, A8K7X1, B3KPN3, E9PDB9
UniProt Related Accession:P51798
Molecular Weight:Observed MW: 89kDa/110kDaCalculated MW: 86kDa/88kDa
NCBI Full Name:H(+)/Cl(-) exchange transporter 7
NCBI Synonym Full Names:chloride channel, voltage-sensitive 7
NCBI Official Symbol:CLCN7  
NCBI Official Synonym Symbols:CLC7; CLC-7; OPTA2; OPTB4; PPP1R63  
NCBI Protein Information:H(+)/Cl(-) exchange transporter 7; H(+)/Cl(-) exchange transporter 7; chloride channel protein 7; chloride channel 7 alpha subunit; protein phosphatase 1, regulatory subunit 63
UniProt Protein Name:H(+)/Cl(-) exchange transporter 7
UniProt Synonym Protein Names:Chloride channel 7 alpha subunit; Chloride channel protein 7; ClC-7
Protein Family:H(+)/Cl(-) exchange transporter
UniProt Gene Name:CLCN7  
UniProt Entry Name:CLCN7_HUMAN
Anti-CLCN7 Antibody (CAB12422)Immunofluorescence analysis of HeLa cells using CLCN7 antibody (CAB12422). Blue: DAPI for nuclear staining.
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