CLCN7 Rabbit pAb
Catalog No:AB-A12422
Manufacturer:ABclonal
Synonyms:CLCN7;CLC-7;CLC7;OPTA2;OPTB4;PPP1R63
Applications:IF
Reactivity:Human
Host:Rabbit
Conjugate:No
€65,00 – €370,00
Product Name: | CLCN7 Rabbit pAb |
Category: | Polyclonal Antibodies |
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. |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 626-805 of human CLCN7 (NP_001278.1). |
Gene ID: | 1186 |
Swiss prot: | P51798 |
Molecular weight: | 86kDa/88kDa |
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