human CLCN7 Over-expression AAV
Category: AAV > Over-Expression
Cat. No: AAV-205358
Availability:
3-5 weeks
Name:
AAV-h-CLCN7
This is an AAV expressing Human CLCN7.
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Viral Details
- Viral Backbone
- Recombinant AAV
- AAV-ITR
- AAV2
- AAV Serotype
- Available in AAV1, AAV2, AAV3, AAV5, AAV6, AAV8, AAV9, AAV-DJ, AAV-DJ8, AAV-DJ9 and other wildtype/synthetic AAV capsids
- Promoter
- CMV (default), or choose from 30 different ubiquitous or cell specific promoter
- Reporter
- none, optional GFP, CFP, YFP, RFP or mCherry
- Storage Buffer
- PBS/5% Glycerol
Gene Details
- Species
- Human
- Gene Symbol
- CLCN7
- Gene Name
- chloride voltage-gated channel 7
- Gene ID
- 1186
- Gene Synonyms
- CLC-7; CLC7; OPTA2; OPTB4; PPP1R63
- ORF Size
- 2418 bp
- RefSeq#
- BC012737
- Gene 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.
- UniGene ID
- Hs.459649
- HGNC ID
- HGNC:2025
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