family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics...
8 KB (998 words) - 23:47, 3 March 2023
humans by loss-of-function mutations in the gene CLCN1. This is the gene encoding the protein CLCN1, that forms the ClC-1 chloride channel, critical for...
26 KB (3,125 words) - 04:49, 26 July 2024
channel in the muscles of the skeleton (skeletal muscle chloride channel 1, CLCN1). Congenital myotonia can be inherited as an autosomal dominant trait (with...
20 KB (2,576 words) - 20:50, 1 August 2024
(delayed muscle relaxation) Myotonia congenita (Chloride channelopathy, CLCN1 gene) Calf muscle /general Calf muscle hypertrophy. Potassium-aggravated...
69 KB (4,051 words) - 18:14, 10 July 2024
affected foal was homozygous for a missense mutation in the gene encoding CLCN1, a protein which regulates the excitability of the skeletal muscle. The...
39 KB (4,289 words) - 10:30, 17 August 2024
Thomsen's disease exist. Both diseases are caused by mutations in the gene CLCN1 encoding the ClC-1 ion channel. More than 130 different mutations exist...
16 KB (1,734 words) - 19:47, 25 July 2024
other types of anion channels. Three CLC subfamilies are found in animals. CLCN1 is involved in setting and restoring the resting membrane potential of skeletal...
21 KB (2,526 words) - 14:32, 22 March 2024
HGNC:2018 Q14CN2 3113 CLCC1 HGNC:29675 Q96S66 3114 CLCF1 HGNC:17412 Q9UBD9 3115 CLCN1 HGNC:2019 P35523 3116 CLCN2 HGNC:2020 P51788 3117 CLCN3 HGNC:2021 P51790...
277 KB (17 words) - 23:17, 27 April 2024
protein. CLCN5 belongs to the family of voltage-gated chloride channel genes (CLCN1-CLCN7, CLCKa and CLCKb) that have about 12 transmembrane domains. These...
12 KB (1,239 words) - 19:53, 23 August 2024
CHRNB1 CHRNB2 CHRNB3 CHRNB4 CHRND CHRNE CHRNG CLCA1 CLCA2 CLCA3 CLCA4 CLCC1 CLCN1 CLCN2 CLCN3 CLCN4 CLCN5 CLCN6 CLCN7 CLCNKA CLCNKB CLIC1 CLIC2 CLIC3 CLIC4...
15 KB (1,545 words) - 18:32, 17 August 2024