8ta2
From Proteopedia
Cryo-EM structure of the human CLC-2 chloride channel transmembrane domain with bound inhibitor AK-42
Structural highlights
DiseaseCLCN2_HUMAN Leukoencephalopathy with mild cerebellar ataxia and white matter edema;Familial hyperaldosteronism type II;Juvenile myoclonic epilepsy. Disease susceptibility is associated with variants affecting the gene represented in this entry. Disease susceptibility may be associated with variants affecting the gene represented in this entry. Disease susceptibility is associated with variants affecting the gene represented in this entry. The disease is caused by variants affecting the gene represented in this entry. The disease is caused by variants affecting the gene represented in this entry. FunctionCLCN2_HUMAN Voltage-gated chloride channel. Chloride channels have several functions including the regulation of cell volume, membrane potential stabilization, signal transduction and transepithelial transport. Involved in the regulation of aldosterone production. The opening of CLCN2 channels at hyperpolarized membrane potentials in the glomerulosa causes cell membrane depolarization, activation of voltage-gated Ca2+ channels and increased expression of aldosterone synthase, the rate-limiting enzyme for aldosterone biosynthesis (PubMed:29403011, PubMed:29403012).[1] [2] [3] [4] References
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Categories: Homo sapiens | Large Structures | Chiu W | Dror RO | Du Bois J | Liu Y | Maduke M | Miller S | Neelands T | Pintilie G | Powers AS | Xu M