名称：CLCN7

别名：HOD; CLC7; CLC-7; OPTA2; OPTB4; PPP1R63

Targets：Disease

描述

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.

Specification

Swissprot：P51798

Gene Accession：BC012737

WB Predicted band size：89 kDa

Host/Isotype：Rabbit IgG

Antibody Type：Primary antibody

Storage：Store at 4°C short term. Aliquot and store at -20°C long term. Avoid freeze/thaw cycles.

Species Reactivity：Human, Mouse, Rat

免疫原：Fusion protein of human CLCN7

Formulation：Purified antibody in PBS with 0.05% sodium azide and 50% glycerol.

Application

Application：WB,IHC

WB：1/500-1/2000

IHC：1/100-1/300

ELISA：1/5000-1/10000

宿主：Rabbit