Chloride channel protein 7

[1]. Anselm A Zdebik, et al. Determinants of anion-proton coupling in mammalian endosomal CLC proteins. J Biol Chem. 2008 Feb 15;283(7):4219-27. [Content Brief]

[2]. Austin R Graves, et al. The Cl-/H+ antiporter ClC-7 is the primary chloride permeation pathway in lysosomes. Nature. 2008 Jun 5;453(7196):788-92. [Content Brief]

[3]. H Hu, et al. X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. Mol Psychiatry. 2016 Jan;21(1):133-48. [Content Brief]

[4]. Thomas J Jentsch, et al. CLC Chloride Channels and Transporters: Structure, Function, Physiology, and Disease. Physiol Rev. 2018 Jul 1;98(3):1493-1590. [Content Brief]

[5]. Krishna R Veeramah, et al. Exome sequencing reveals new causal mutations in children with epileptic encephalopathies. Epilepsia. 2013 Jul;54(7):1270-81. [Content Brief]

[6]. Lilia Leisle, et al. ClC-7 is a slowly voltage-gated 2Cl(-)/1H(+)-exchanger and requires Ostm1 for transport activity. EMBO J. 2011 Jun 1;30(11):2140-52. [Content Brief]

[7]. Raul E Guzman, et al. Preferential association with ClC-3 permits sorting of ClC-4 into endosomal compartments. J Biol Chem. 2017 Nov 17;292(46):19055-19065. [Content Brief]

[8]. Takehiko Ogura, et al. ClC-3B, a novel ClC-3 splicing variant that interacts with EBP50 and facilitates expression of CFTR-regulated ORCC. FASEB J. 2002 Jun;16(8):863-5. [Content Brief]

[9]. Elena-Raluca Nicoli, et al. Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification. Am J Hum Genet. 2019 Jun 6;104(6):1127-1138. [Content Brief]

[10]. Ioana Neagoe, et al. The late endosomal ClC-6 mediates proton/chloride countertransport in heterologous plasma membrane expression. J Biol Chem. 2010 Jul 9;285(28):21689-97. [Content Brief]

[11]. E E Palmer, et al. De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females. Mol Psychiatry. 2018 Feb;23(2):222-230. [Content Brief]