Applications: | IF, IHC-P, WB |
Species Reactivity: | Human |
Isotype: | Rabbit Ig |
Purification: | Affinity Purified Rabbit Polyclonal Antibody |
Description: | The product of this gene belongs to the CLC chloridechannel family of proteins. Chloride channels play important rolesin the plasma membrane and in intracellular organelles. This geneencodes chloride channel 7. Defects in this gene are the cause ofosteopetrosis autosomal recessive type 4 (OPTB4), also calledinfantile malignant osteopetrosis type 2 as well as the cause ofautosomal dominant osteopetrosis type 2 (OPTA2), also calledautosomal dominant Albers-Schonberg disease or marble diseaseautosoml dominant. Osteopetrosis is a rare genetic diseasecharacterized by abnormally dense bone, due to defective resorptionof immature bone. OPTA2 is the most common form of osteopetrosis,occurring in adolescence or adulthood. |
Further Information: | This CLCN7 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 692-720 amino acids from the C-terminal region of human CLCN7. |
Synonym: | H(+)/Cl(-) exchange transporter 7, Chloride channel 7 alpha subunit, Chloride channel protein 7, ClC-7, CLCN7 |
Ascension Number: | P51798 |
NCBI EntrezGene: | 1186 |
Shipping Conditions: | Ship on cold packs |
Storage: | Maintain refrigerated at 2-8 C for up to 2 weeks. For long term storage store at -20 C in small aliquots to prevent freeze-thaw cycles. |
Usage: | Research use only |