Recombinant Human CLCN7, GST-tagged

• Cat.No.: CLCN7-11280H
• Product Overview: Recombinant Human CLCN7 protein, fused to GST-tag, was expressed in E.coli and purified by GSH-sepharose.

Specification

• Description: 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.
• Source: E.coli
• Species: Human
• Tag: GST
• Protein length: C-term-208a.a.
• Storage: The protein is stored in PBS buffer at -20℃. Avoid repeated freezing and thawing cycles.
• Storage Buffer: 1M PBS (58mM Na2HPO4,17mM NaH2PO4, 68mM NaCl, pH8. ) added with 100mM GSH and 1% Triton X-100,15%glycerol.

Gene Information

• Gene Name: CLCN7 chloride channel, voltage-sensitive 7 [ Homo sapiens ]
• Official Symbol: CLCN7
• Synonyms: CLCN7; chloride channel, voltage-sensitive 7; chloride channel 7; H(+)/Cl(-) exchange transporter 7; CLC 7; ClC 7; CLC7; OPTA2; PPP1R63; protein phosphatase 1; regulatory subunit 63; chloride channel protein 7; protein phosphatase 1, regulatory subunit 63; CLC-7; OPTB4; FLJ26686; FLJ39644; FLJ46423
• Gene ID: 1186
• mRNA Refseq: NM_001114331
• Protein Refseq: NP_001107803
• MIM: 602727
• UniProt ID: P51798
• Chromosome Location: 16p13
• Function: ATP binding; antiporter activity; chloride channel activity; ion channel activity; nucleotide binding; voltage-gated chloride channel activity