Anti-CLCN7 (aa 706-805) polyclonal antibody

Species Reactivity

Human

Immunogen

CLCN7 (NP_001278, 706 a.a. ~ 805 a.a) partial recombinant protein with GST tag. The sequence is LRLKDFRDAYPRFPPIQSIHVSQDERECTMDLSEFMNPSPYTVPQEASLPRVFKLFRALG LRHLVVVDNRNQVVGLVTRKDLARYRLGKRGLEELSLAQT

Conjugate

Alternative Names

CLCN7; chloride channel, voltage-sensitive 7; CLC7; CLC-7; OPTA2; OPTB4; PPP1R63; H(+)/Cl(-) exchange transporter 7; chloride channel protein 7; chloride channel 7 alpha subunit; protein phosphatase 1, regulatory subunit 63;

Entrez Gene ID

UniProt ID

Antigen 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.

Pathway

Ion channel transport; Transmembrane transport of small molecules;