channel subfamily H member 1 is a protein that in humans is encoded by the KCNH1 gene. Voltage-gated potassium (Kv) channels represent the most complex class...
14 KB (1,586 words) - 18:58, 6 September 2023
(January 2015). "Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy". Nature Genetics. 47 (1):...
14 KB (1,120 words) - 03:33, 20 May 2024
craniofacial features. TBS is caused by pathogenic variants (mutations) in the KCNH1 gene at chromosomal locus 1q32.2, (GRCh38): 1:210,678,313-211,134,147. It...
9 KB (707 words) - 04:26, 14 June 2023
caused by pathogenic variants (mutations) in a potassium channel gene – KCNH1. Similar pathogenic variants in this gene were previously found to cause...
7 KB (613 words) - 10:32, 8 January 2024
region do not lead to morphological symptoms of Down syndrome. Mutations in KCNH1, a voltage gated potassium channel lead to Temple-Baraitser (also known...
173 KB (17,264 words) - 08:00, 8 May 2024
regulatory factor 2 binding protein 2 IRF6: gene for connective tissue formation KCNH1 (1q32) KIF14 (1q32) LEFTY1: Left-right determination factor 1 LHX9 encoding...
46 KB (3,284 words) - 04:21, 11 April 2024
2 (KCNQ2), Kv7.3 (KCNQ3), Kv7.4 (KCNQ4), Kv7.5 (KCNQ5) Kvα10.x: Kv10.1 (KCNH1) Kvα1.x - Shaker-related: Kv1.4 (KCNA4) Kvα3.x - Shaw-related: Kv3.3 (KCNC3)...
19 KB (1,692 words) - 03:53, 29 November 2023
2 (KCNQ2), Kv7.3 (KCNQ3), Kv7.4 (KCNQ4), Kv7.5 (KCNQ5) Kvα10.x: Kv10.1 (KCNH1) rapidly inactivating Kvα1.x - Shaker-related: Kv1.4 (KCNA4) Kvα4.x - Shal-related:...
17 KB (1,769 words) - 15:18, 22 June 2024
HGNC:6249 Q9UJ96 7997 KCNG3 HGNC:18306 Q8TAE7 7998 KCNG4 HGNC:19697 Q8TDN1 7999 KCNH1 HGNC:6250 O95259 8000 KCNH2 HGNC:6251 Q12809 8001 KCNH3 HGNC:6252 Q9ULD8...
277 KB (17 words) - 15:46, 9 May 2024
transduction. CNBD1; CNGA1; CNGA2; CNGA3; CNGB1; CNGB3; HCN1; HCN2; HCN3; HCN4; KCNH1; KCNH2; KCNH3; KCNH4; KCNH5; KCNH6; KCNH7; KCNH8; PNPLA6; PNPLA7; PRKAR1A;...
4 KB (327 words) - 22:46, 2 May 2024