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) - 11:58, 6 October 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 (2,564 words) - 03:08, 30 September 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
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 (4,287 words) - 03:11, 22 September 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 (1,813 words) - 00:44, 14 November 2024
HGNC:2018 Q14CN2 3110 CLCC1 HGNC:29675 Q96S66 3111 CLCF1 HGNC:17412 Q9UBD9 3112 CLCN1 HGNC:2019 P35523 3113 CLCN2 HGNC:2020 P51788 3114 CLCN3 HGNC:2021 P51790...
277 KB (17 words) - 18:34, 6 October 2024
(delayed muscle relaxation) Myotonia congenita (Chloride channelopathy, CLCN1 gene) Calf muscle /general Calf muscle hypertrophy. Potassium-aggravated...
85 KB (5,216 words) - 07:42, 11 November 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) - 17:28, 19 September 2024
608390; SCN4A Myotonia congenita, dominant; 160800; CLCN1 Myotonia congenita, recessive; 255700; CLCN1 Myotonic dystrophy; 160900; DMPK Myotonic dystrophy...
234 KB (18,877 words) - 06:16, 6 November 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
family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics...
5 KB (721 words) - 02:13, 30 December 2023
Another example is anthracene-9-carboxylic acid, a potent blocker of the CLCN1-type chloride channel found in skeletal muscle, which is used to study animal...
4 KB (482 words) - 07:11, 6 September 2024
these have been identified as the cause of genetic diseases. Mutations in CLCN1 lead to myotonia (OMIM: 160800), mutations in CLCN2 can lead to idiopathic...
18 KB (1,953 words) - 23:10, 23 August 2023
Biol. Chem. 281 (40): 29448–54. doi:10.1074/jbc.M605919200. PMID 16873362. CLCN1+protein,+human at the U.S. National Library of Medicine Medical Subject...
7 KB (926 words) - 07:50, 10 February 2024
family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics...
7 KB (863 words) - 21:13, 26 March 2024
including 11 coding exons (from 2 to 12). The CLCN5 gene has 8 paralogues (CLCN1, CLCN2, CLCN3, CLCN4, CLCN6, CLCN7, CLCNKA, CLCNKB) and 201 orthologues...
43 KB (4,939 words) - 02:57, 1 September 2024
2013). "Novel brain expression of ClC-1 chloride channels and enrichment of CLCN1 variants in epilepsy". Neurology. 80 (12): 1078–1085. doi:10.1212/WNL.0b013e31828868e7...
34 KB (4,502 words) - 05:10, 2 November 2024