• Thumbnail for SCNN1A
    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
  • Thumbnail for Epithelial sodium channel
    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
  • Thumbnail for Female infertility
    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
  • Thumbnail for Isolated hyperchlorhidrosis
    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
  • Thumbnail for SCNN1D
    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
  • Thumbnail for SCNN1G
    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