SCNN1B
Sodium channel, nonvoltage-gated 1, beta (Liddle syndrome) | |||||||||||
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Identifiers | |||||||||||
Symbols | SCNN1B ; ENaCb; ENaCbeta; SCNEB | ||||||||||
External IDs | Template:OMIM5 Template:MGI HomoloGene: 284 | ||||||||||
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RNA expression pattern | |||||||||||
File:PBB GE SCNN1B 205464 at tn.png | |||||||||||
More reference expression data | |||||||||||
Orthologs | |||||||||||
Template:GNF Ortholog box | |||||||||||
Species | Human | Mouse | |||||||||
Entrez | n/a | n/a | |||||||||
Ensembl | n/a | n/a | |||||||||
UniProt | n/a | n/a | |||||||||
RefSeq (mRNA) | n/a | n/a | |||||||||
RefSeq (protein) | n/a | n/a | |||||||||
Location (UCSC) | n/a | n/a | |||||||||
PubMed search | n/a | n/a |
Sodium channel, nonvoltage-gated 1, beta (Liddle syndrome), also known as SCNN1B, is a human gene.[1]
References
Further reading
- Alvarez de la Rosa D, Canessa CM, Fyfe GK, Zhang P (2000). "Structure and regulation of amiloride-sensitive sodium channels". Annu. Rev. Physiol. 62: 573–94. doi:10.1146/annurev.physiol.62.1.573. PMID 10845103.
- Rossier BC, Pradervand S, Schild L, Hummler E (2002). "Epithelial sodium channel and the control of sodium balance: interaction between genetic and environmental factors". Annu. Rev. Physiol. 64: 877–97. doi:10.1146/annurev.physiol.64.082101.143243. PMID 11826291.
- Peters KW, Qi J, Johnson JP; et al. (2002). "Role of snare proteins in CFTR and ENaC trafficking". Pflugers Arch. 443 Suppl 1: S65–9. doi:10.1007/s004240100647. PMID 11845306.
- Edelheit O, Hanukoglu I, Gizewska M; et al. (2005). "Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronism". Clin. Endocrinol. (Oxf). 62 (5): 547–53. doi:10.1111/j.1365-2265.2005.02255.x. PMID 15853823.
- Voilley N, Bassilana F, Mignon C; et al. (1996). "Cloning, chromosomal localization, and physical linkage of the beta and gamma subunits (SCNN1B and SCNN1G) of the human epithelial amiloride-sensitive sodium channel". Genomics. 28 (3): 560–5. doi:10.1006/geno.1995.1188. PMID 7490094.
- Waldmann R, Champigny G, Bassilana F; et al. (1996). "Molecular cloning and functional expression of a novel amiloride-sensitive Na+ channel". J. Biol. Chem. 270 (46): 27411–4. PMID 7499195.
- Hansson JH, Nelson-Williams C, Suzuki H; et al. (1995). "Hypertension caused by a truncated epithelial sodium channel gamma subunit: genetic heterogeneity of Liddle syndrome". Nat. Genet. 11 (1): 76–82. doi:10.1038/ng0995-76. PMID 7550319.
- McDonald FJ, Price MP, Snyder PM, Welsh MJ (1995). "Cloning and expression of the beta- and gamma-subunits of the human epithelial sodium channel". Am. J. Physiol. 268 (5 Pt 1): C1157–63. PMID 7762608.
- Shimkets RA, Warnock DG, Bositis CM; et al. (1994). "Liddle's syndrome: heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel". Cell. 79 (3): 407–14. PMID 7954808.
- Snyder PM, Price MP, McDonald FJ; et al. (1996). "Mechanism by which Liddle's syndrome mutations increase activity of a human epithelial Na+ channel". Cell. 83 (6): 969–78. PMID 8521520.
- Hansson JH, Schild L, Lu Y; et al. (1996). "A de novo missense mutation of the beta subunit of the epithelial sodium channel causes hypertension and Liddle syndrome, identifying a proline-rich segment critical for regulation of channel activity". Proc. Natl. Acad. Sci. U.S.A. 92 (25): 11495–9. PMID 8524790.
- Chang SS, Grunder S, Hanukoglu A; et al. (1996). "Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1". Nat. Genet. 12 (3): 248–53. doi:10.1038/ng0396-248. PMID 8589714.
- Tamura H, Schild L, Enomoto N; et al. (1996). "Liddle disease caused by a missense mutation of beta subunit of the epithelial sodium channel gene". J. Clin. Invest. 97 (7): 1780–4. PMID 8601645.
- Firsov D, Schild L, Gautschi I; et al. (1997). "Cell surface expression of the epithelial Na channel and a mutant causing Liddle syndrome: a quantitative approach". Proc. Natl. Acad. Sci. U.S.A. 93 (26): 15370–5. PMID 8986818.
- Gründer S, Firsov D, Chang SS; et al. (1997). "A mutation causing pseudohypoaldosteronism type 1 identifies a conserved glycine that is involved in the gating of the epithelial sodium channel". EMBO J. 16 (5): 899–907. doi:10.1093/emboj/16.5.899. PMID 9118951.
- Pirozzi G, McConnell SJ, Uveges AJ; et al. (1997). "Identification of novel human WW domain-containing proteins by cloning of ligand targets". J. Biol. Chem. 272 (23): 14611–6. PMID 9169421.
- Inoue J, Iwaoka T, Tokunaga H; et al. (1998). "A family with Liddle's syndrome caused by a new missense mutation in the beta subunit of the epithelial sodium channel". J. Clin. Endocrinol. Metab. 83 (6): 2210–3. PMID 9626162.
- Persu A, Barbry P, Bassilana F; et al. (1998). "Genetic analysis of the beta subunit of the epithelial Na+ channel in essential hypertension". Hypertension. 32 (1): 129–37. PMID 9674649.
- Uehara Y, Sasaguri M, Kinoshita A; et al. (1998). "Genetic analysis of the epithelial sodium channel in Liddle's syndrome". J. Hypertens. 16 (8): 1131–5. PMID 9794716.
- Saxena A, Hanukoglu I, Strautnieks SS; et al. (1998). "Gene structure of the human amiloride-sensitive epithelial sodium channel beta subunit". Biochem. Biophys. Res. Commun. 252 (1): 208–13. doi:10.1006/bbrc.1998.9625. PMID 9813171.
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