The SCNN1B gene encodes for the β subunit of the epithelial sodium channel ENaC in vertebrates. ENaC is assembled as a heterotrimer composed of three homologous...
24 KB (3,035 words) - 14:44, 6 June 2024
subunits α or δ, β, and γ, These subunits are encoded by four genes: SCNN1A, SCNN1B, SCNN1G, and SCNN1D. The ENaC is involved primarily in the reabsorption...
25 KB (2,956 words) - 20:54, 27 June 2024
recessive PHA1 is caused by mutations in both alleles of either SCNN1A, SCNN1B or SCNN1G. These genes code the different subunits of the epithelial sodium...
24 KB (2,139 words) - 08:02, 9 September 2024
Q9UI33 14382 SCNM1 HGNC:23136 Q9BWG6 14383 SCNN1A HGNC:10599 P37088 14384 SCNN1B HGNC:10600 P51168 14385 SCNN1D HGNC:10601 P51172 14386 SCNN1G HGNC:10602...
282 KB (17 words) - 19:37, 1 October 2024
imaging. Testing of her CFTR (gene associated with cystic fibrosis), SCNN1A, SCNN1B, and SCNN1G genes came back normal. Sequencing of her CA12 gene found two...
12 KB (1,414 words) - 18:42, 9 July 2024
receptor 2 S-layer SCN10A SCN1B SCN2B SCN3A SCN3B SCN4B SCN7A SCN8A SCNN1A SCNN1B SCNN1D SCNN1G SIGLEC SK3 SK channel Saffman–Delbrück model Sammy Lee (scientist)...
15 KB (1,545 words) - 18:32, 17 August 2024
pseudohypoaldosteronism type I result from mutations in three genes (SCNN1A, SCNN1B, and SCNN1B) that encode for protein subunits of the Epithelial sodium (Na+) channel...
32 KB (3,573 words) - 11:34, 17 September 2024
β, and γ or δ, β, and γ. The other ENAC subunits are encoded by SCNN1A, SCNN1B, and SCNN1G. ENaC is expressed in epithelial cells and is different from...
12 KB (1,553 words) - 17:05, 6 June 2024
subunits α, β, and γ or δ, β, and γ. The other ENAC subunits are encoded by SCNN1B, SCNN1G, and SCNN1D. ENaC is expressed in epithelial cells and is different...
26 KB (3,120 words) - 14:45, 6 June 2024
β, and γ or δ, β, and γ. The other ENAC subunits are encoded by SCNN1A, SCNN1B, and SCNN1D. ENaC is expressed in epithelial cells and is different from...
27 KB (3,401 words) - 14:46, 6 June 2024
nerve cells into the cortical plate. WWP2 has been shown to interact with SCNN1B and ATN1. Full-length WWP2 (WWP2-FL), together with N-terminal, (WWP2-N);...
10 KB (1,225 words) - 20:16, 8 February 2024
ATP2A1 Bronchiectasis with or without elevated sweat chloride 1; 211400; SCNN1B Bronchiectasis with or without elevated sweat chloride 2; 613021; SCNN1A...
234 KB (18,877 words) - 15:43, 9 May 2024