85-1399-53　Barttin, Human Control Peptide 100ug　B0094-50

特徴

• A 16-aa Peptide sequence after the 2nd TM domain and in the cytoplasmic region of the human/mouse/rat Barttin.
• Chloride is a critical component of all living cells. Voltage-gated chloride channels regulate cellular traffic of chloride ion. The chloride channels (CIC or CLC) performs several functions including the regulation of cell volume, membrane potential stabilization, signal transduction, and transepithelial transport. Mutations in CIC genes have been linked with several human diseases including myotonias (Thomsen's disease), cystic fibrosis, Bartters syndrome type III, Dent's disease, and X-linked recessive nephrolithiasis. In mammals, CLC proteins form a superfamily of at least 9 different genes (CLC1-7 also known as CLCN1-7 and CLK1-2 or CLCKa and CLCKb). Additional forms of these proteins are obtained by alternative splicing. All CLC proteins (~700-1000 aa) are predicted to contain 10 (possibly 12) transmembrane domains. Except CLC-1 and CLC-K1/K2 that are specific for kidney, most other CLC are widely distributed in various tissues.
• Bartter syndrome is an autosomal recessive disorder defined by hyokalemic metabolic alkalosis, elevated plasma renin activity and hyperaldosteronism with normal blood pressure and altered prostaglandin metabolism. Mutations in the NKCC2, K+-channel ROMK, and CLCNKB genes are associated with Bartter syndrome type1-3, respectively. BSND encodes a protein known as barttin, which contains 2 TM and is expressed in thin limb and thick ascending limb of the loop of Henle in the kidney, and in the dark cells of the inner ear. BSND gene is mutated in Bartter syndrome with sensorineural deafness. Barttin (mouse 307-aa, rat 308-aa, human 320-aa, chromosome 1p31-p32, ~40-42kD) acts as an essential b-subunit for CLC-Ka and CLC-Kb with which it colocalizes in basolateral membrane of renal tubules and of K-secreting epithelia of the inner ear.