The SCNN1A gene encodes for the α subunit of the epithelial sodium channel ENaC in vertebrates. ENaC is assembled as a heterotrimer composed of three homologous...
26 KB (3,120 words) - 14:45, 6 June 2024
imbalanced salts in the body especially in infancy. A stop mutation in the SCNN1A gene has been shown to be associated with female infertility. PHA2 also...
19 KB (1,660 words) - 02:14, 9 June 2024
homologous 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
region Y Mutations lead to 46,XY females; translocations lead to 46,XX males SCNN1A Alpha subunit of Epithelial sodium channel (ENaC) Nonsense mutation leads...
63 KB (7,112 words) - 11:14, 23 July 2024
CT imaging. Testing of her CFTR (gene associated with cystic fibrosis), SCNN1A, SCNN1B, and SCNN1G genes came back normal. Sequencing of her CA12 gene...
12 KB (1,414 words) - 18:42, 9 July 2024
subunits α, 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...
12 KB (1,553 words) - 17:05, 6 June 2024
Q9Y5Y9 14381 SCN11A HGNC:10583 Q9UI33 14382 SCNM1 HGNC:23136 Q9BWG6 14383 SCNN1A HGNC:10599 P37088 14384 SCNN1B HGNC:10600 P51168 14385 SCNN1D HGNC:10601...
282 KB (17 words) - 07:55, 20 June 2024
Ryanodine receptor 2 S-layer SCN10A SCN1B SCN2B SCN3A SCN3B SCN4B SCN7A SCN8A SCNN1A SCNN1B SCNN1D SCNN1G SIGLEC SK3 SK channel Saffman–Delbrück model Sammy...
15 KB (1,545 words) - 11:10, 28 December 2023
subunits α, 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...
27 KB (3,401 words) - 14:46, 6 June 2024
of pseudohypoaldosteronism type I result from mutations in three genes (SCNN1A, SCNN1B, and SCNN1B) that encode for protein subunits of the Epithelial...
32 KB (3,573 words) - 02:30, 23 May 2024