Viral Details

Viral Backbone

Human Adenovirus Type5 (dE1/E3)

Promoter

CMV

Reporter

none, optional GFP, CFP, YFP, RFP or mCherry

Storage Buffer

DMEM, 2% BSA, 2.5% 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