2 α- and 2 β-subunits, which are CNGA3 and CNGB3, respectively, in cone cells. When expressed alone, CNGB3 cannot produce functional channels, whereas...
29 KB (3,222 words) - 18:49, 15 September 2024
Cyclic nucleotide gated channel beta 3 (redirect from CNGB3)
Cyclic nucleotide gated channel beta 3, also known as CNGB3, is a human gene encoding an ion channel protein. Cyclic nucleotide-gated ion channel Stargardt...
7 KB (819 words) - 00:05, 30 January 2023
(SADDAN) FGFR3 dominant Stargardt disease (macular degeneration) ABCA4, CNGB3, ELOVL4, PROM1 dominant or recessive 1-1.28:10,000 Stickler syndrome (multiple...
42 KB (983 words) - 18:14, 6 October 2024
nicotinic, alpha 2 (neuronal) CLN8: ceroid-lipofuscinosis, neuronal 8 CNGB3: cyclic nucleotide gated channel beta 3 COH1: vacuolar protein sorting 13B...
29 KB (1,896 words) - 23:26, 28 March 2024
clinical programs in patients with achromatopsia due to mutation in the ACHM CNGB3 or ACHM CNGA3 genes. Applied Genetic Technologies Corporation is a patient...
7 KB (502 words) - 15:28, 13 February 2024
HGNC:2150 Q16281 3266 CNGA4 HGNC:2152 Q8IV77 3267 CNGB1 HGNC:2151 Q14028 3268 CNGB3 HGNC:2153 Q9NQW8 3269 CNIH1 HGNC:19431 O95406 3270 CNIH2 HGNC:28744 Q6PI25...
277 KB (17 words) - 18:34, 6 October 2024
exogenously. On the other hand, CNGB3, previously called the cone β subunit, does not. Mutations in human CNGA3 and CNGB3 are involved in complete achromatopsia...
39 KB (4,913 words) - 23:11, 11 January 2024
SCN9A; SCN10A; SCN11A SLC9A10; SLC9A11 CNGA1; CNGA2; CNGA3; CNGA4 CNGB1; CNGB3 HCN1; HCN2; HCN3; HCN4 ITPR1; ITPR2; ITPR3 HVCN1 TPTE, part of the larger...
19 KB (1,692 words) - 03:53, 29 November 2023
role in visual signal transduction. CNBD1; CNGA1; CNGA2; CNGA3; CNGB1; CNGB3; HCN1; HCN2; HCN3; HCN4; KCNH1; KCNH2; KCNH3; KCNH4; KCNH5; KCNH6; KCNH7;...
4 KB (327 words) - 22:46, 2 May 2024
(February 2004). "Achromatopsia caused by novel mutations in both CNGA3 and CNGB3". Journal of Medical Genetics. 41 (2): 20e–20. doi:10.1136/jmg.2003.011437...
9 KB (971 words) - 16:44, 27 December 2023
Achondroplasia; 100800; FGFR3 Achromatopsia-2; 216900; CNGA3 Achromatopsia-3; 262300; CNGB3 Acrocallosal syndrome; 200990; GLI3 Acrocapitofemoral dysplasia; 607778;...
234 KB (18,877 words) - 15:43, 9 May 2024