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The CLCN family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics while sharing significant sequence homology.
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In Mus (zeige TRPV6 Antikörper) spretus, the chloride channel 4 gene Clcn4-2 is X-linked and dosage compensated by X up-regulation and X inactivation, while in the closely related mouse species Mus (zeige TRPV6 Antikörper) musculus, Clcn4-2 has been translocated to chromosome 7.
This study performed whole exome sequencing demonistrated that the true de novo variants represent mutations in genes (KCNH5 (zeige KCNH5 Antikörper), CLCN4, and ARHGEF15 (zeige ARHGEF15 Antikörper)) not previously associated with epilepsies in humans.
the voltage dependence of uncoupled ClC-4 by protons and anions
CLCN4 is a novel driver of colon cancer progression.
Studies showed that three novel CLC-5 (zeige CLCN5 Antikörper) mutations were identified, and mutations in OCRL1 (zeige OCRL Antikörper), CLC-4 and cofilin (zeige CFL1 Antikörper) excluded in causing Dent's disease.
ClC-4 is an intracellular chloride channel (zeige CLCA1 Antikörper) that stimulates copper incorporation into ceruloplasmin (zeige CP Antikörper), probably by improving the efficiency of the ATP7B (zeige ATP7B Antikörper) copper pump.
coupled Cl-/H+ transport of ClC-4 and ClC-5 (zeige CLCN5 Antikörper) is of significant magnitude in vivo
crystal structure: CLIC4 (zeige CLIC4 Antikörper) appears to be able to form a redox-regulated ion channel in the absence of any partner proteins
The proposed mechanism results in anion-dependent conversion of ClC (zeige CLC Antikörper)-type exchanger into an anion channel with typical attributes of ClC (zeige CLC Antikörper) anion channels.
The CLCN family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics while sharing significant sequence homology. Chloride channel 4 has an evolutionary conserved CpG island and is conserved in both mouse and hamster. This gene is mapped in close proximity to APXL (Apical protein Xenopus laevis-like) and OA1 (Ocular albinism type I), which are both located on the human X chromosome at band p22.3. The physiological role of chloride channel 4 remains unknown but may contribute to the pathogenesis of neuronal disorders. Alternate splicing results in two transcript variants that encode different proteins.
chloride channel 4
, H(+)/Cl(-) exchange transporter 4
, chloride channel protein 4
, chloride transporter ClC-4
, voltage-gated chloride channel ClC-4A
, chloride channel 4-2
, putative chloride channel (similar to Mm Clcn4-2)
, putative chloride channel 4-2