channel Kb, also known as CLCNKB, is a protein which in humans is encoded by the CLCNKB gene. Chloride channel Kb (CLCNKB) is a member of the CLC family...
9 KB (1,131 words) - 07:04, 29 April 2025
Gitelman syndrome cases can be attributed to disease-causing variants in the CLCNKB gene. Disease-causing variants in this gene are responsible for Bartter...
28 KB (2,939 words) - 10:46, 19 April 2025
CLCN4, CLCN5, CLCN6, CLCN7, CLCNKA, CLCNKB BSND - encodes barttin, accessory subunit beta for CLCNKA and CLCNKB Members of Epithelial Chloride Channel...
21 KB (2,534 words) - 19:25, 22 December 2024
ROMK/KCNJ1 thick ascending limb K+ channel classic Bartter's syndrome type 3 CLCNKB Cl− channel Bartter's syndrome with sensorineural deafness type 4 BSND Cl−...
17 KB (1,696 words) - 22:40, 20 December 2024
encompass the syndromes caused by mutations in CLDN16, CLDN19, CASR or CLCNKB. In these diseases, reabsorption of divalent cations (such as magnesium...
44 KB (4,524 words) - 20:52, 2 January 2025
HGNC:2024 P51797 3118 CLCN7 HGNC:2025 P51798 3119 CLCNKA HGNC:2026 P51800 3120 CLCNKB HGNC:2027 P51801 3121 CLDN1 HGNC:2032 O95832 3122 CLDN2 HGNC:2041 P57739...
277 KB (17 words) - 18:34, 6 October 2024
2008). "Association study of variants in two ion-channel genes (TSC and CLCNKB) and hypertension in two ethnic groups in Northwest China". Clinica Chimica...
23 KB (2,683 words) - 15:02, 17 December 2024
vicinity to two other kidney-specific chloride channel genes, CLCNKA and CLCNKB. Chloride channel GRCh38: Ensembl release 89: ENSG00000011021 – Ensembl...
5 KB (721 words) - 02:13, 30 December 2023
and potassium recycling in the inner ear. The gene is highly similar to CLCNKB, which is located 10 kb downstream from this gene. CLCNKA encodes one of...
10 KB (1,287 words) - 12:56, 14 August 2023
mutations in CLCN7 can lead to osteopetrosis (OMIM: 259700), and mutations in CLCNKB can lead to Bartter syndrome (OMIM: 241200). PDB: 2nye; Rudolph MJ, Amodeo...
18 KB (1,953 words) - 23:10, 23 August 2023
CLCA2 CLCA3 CLCA4 CLCC1 CLCN1 CLCN2 CLCN3 CLCN4 CLCN5 CLCN6 CLCN7 CLCNKA CLCNKB CLIC1 CLIC2 CLIC3 CLIC4 CLIC5 CLIC6 CLNS1A CLNS1B CNGB1 Calcium-activated...
15 KB (1,545 words) - 18:32, 17 August 2024
gene has 8 paralogues (CLCN1, CLCN2, CLCN3, CLCN4, CLCN6, CLCN7, CLCNKA, CLCNKB) and 201 orthologues among jawed vertebrates (Gnathostomata). Five different...
41 KB (4,885 words) - 07:00, 29 April 2025
241200; KCNJ1 Bartter syndrome, type 3; 607364; CLCNKB Bartter syndrome, type 4, digenic; 602522; CLCNKB Bartter syndrome, type 4a; 602522; BSND Bartter...
234 KB (18,877 words) - 18:07, 24 March 2025