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Immunogen sequence: DSMILLGSV ERSELQALLQ RHLCPERRLR AAQEMARKLS ELPYDGKARL AGEGLPGAPP GRPESFAFVD EDEDEDLSGK SELPPSLALH PSTTAPLSPE EPNGPLPGHK QQPEAPEPAG QRPSIFQSLL HCLLGRARPT KKKTTQDSTD LVDNMSPEEI EAWEQEQLSQ PVCFDSCCID QSPFQLVEQT TLHKTHTLFS LLGLHLAYVT SMGKLRGVLA LEELQKAIEG HTKSGVQLRP PLASFRNTTS TRKSTGAPPS SAENWNLPED RPGATGTGDV IAASPETPVP SPSPEPPLSL APGKVEGELE ELELVESPGL EEELADILQG PSLRSTDEED EDELIL (634-988 aa encoded by BC112156)
The family of voltage-dependent chloride channels (CLCs) regulate cellular trafficking of chloride ions, a critical component of all living cells. CLCs regulate excitability in muscle and nerve cells, aid in organic solute transport and maintain cellular volume. CLC1 is highly expressed in skeletal muscle. Mutations in the gene encoding CLC1 lead to myotonia, an inheritable disorder characterized by muscle stiffness and renal salt wasting. CLC2 is highly expressed in the epithelia of several organs including lung, which suggests CLC2 may be a possible therapeutic target for cystic fibrosis. CLC3 expression is particularly abundant in neuronal tissue, while CLC4 expression is evident in skeletal and cardiac muscle as well as brain. Mutations in the gene encoding CLC5 lead to Dent's disease, a renal disorder characterized by proteinuria and hypercalciuria. CLC6 and CLC7 are broadly expressed in several tissues including testis, kidney, brain and muscle.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: chloride channel 1, skeletal muscle; Chloride channel protein 1; Chloride channel protein, skeletal muscle; chloride channel, voltage-sensitive 1; CIC 1; CIC1; ClC-1; MGC138361; MGC142055
Gene Aliases: CLC1; CLCN1
UniProt ID: (Human) P35523
Entrez Gene ID: (Human) 1180
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