rectifier potassium channel 10 is a protein that in humans is encoded by the KCNJ10 gene. This gene encodes a member of the inward rectifier-type potassium...
12 KB (1,324 words) - 08:48, 8 November 2023
genetic disorder caused by mutations in the KCNJ10 gene, as discovered by Bockenhauer and co-workers. The KCNJ10 gene encodes the K+ channel Kir4.1 (allowing...
14 KB (1,611 words) - 06:57, 26 July 2023
altered Kir2.6 function. EAST/SeSAME syndrome is caused by mutations in KCNJ10. G protein-coupled inwardly-rectifying potassium channel hERG Transporter...
22 KB (2,007 words) - 01:49, 26 March 2024
HGNC:6267 P48051 8017 KCNJ8 HGNC:6269 Q15842 8018 KCNJ9 HGNC:6270 Q92806 8019 KCNJ10 HGNC:6256 P78508 8020 KCNJ11 HGNC:6257 Q14654 8021 KCNJ12 HGNC:6258 Q14500...
277 KB (17 words) - 15:46, 9 May 2024
include the syndromes caused by genetic mutations in SLC12A3, CLNCKB, BSND, KCNJ10, FXYD2, HNF1B or PCBD1. In these diseases, the hypomagnesemia is accompanied...
40 KB (4,092 words) - 20:30, 1 April 2024
(May 2009). "Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations". The New England Journal of Medicine. 360 (19): 1960–1970. doi:10...
52 KB (5,805 words) - 11:53, 10 May 2024
KCNF1 KCNG1 KCNG2 KCNG3 KCNG4 KCNH3 KCNH4 KCNH6 KCNH7 KCNH8 KCNIP1 KCNIP4 KCNJ10 KCNJ12 KCNJ13 KCNJ14 KCNJ15 KCNJ16 KCNJ3 KCNJ4 KCNJ5 KCNJ6 KCNJ8 KCNJ9 KCNK1...
15 KB (1,545 words) - 11:10, 28 December 2023
IL-16. Interleukin 16 has been shown to interact with: GRIN2A, GRIN2D, KCNJ10, KCNJ15, Kir2.1, PPP1R12A, and PPP1R12B. GRCh38: Ensembl release 89: ENSG00000172349...
13 KB (1,487 words) - 10:31, 10 January 2024
Denoyelle F, Marlin S (September 2010). "Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular...
6 KB (714 words) - 20:49, 11 April 2024
WNT4 Sertoli cell-only syndrome; 400042; ZNF148 SESAME syndrome; 612780; KCNJ10 Severe combined immunodeficiency due to ADA deficiency; 102700; ADA Severe...
234 KB (18,877 words) - 15:43, 9 May 2024