SCNN1B

From Wikipedia, the free encyclopedia

Sodium channel, nonvoltage-gated 1, beta (Liddle syndrome)

Identifiers

SCNN1B; ENaCb; ENaCbeta; SCNEB

External IDs

OMIM: 600760 MGI: 104696 HomoloGene: 284

Gene ontology
Molecular Function:	• ion channel activity • protein binding • amiloride-sensitive sodium channel activity • sodium ion binding
Cellular Component:	• membrane fraction • integral to plasma membrane • membrane
Biological Process:	• ion transport • sodium ion transport • excretion • response to stimulus

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_000336 (mRNA)
NP_000327 (protein)

NM_011325 (mRNA)
NP_035455 (protein)

Location

Chr 16: 23.22 - 23.3 Mb

Chr 7: 121.66 - 121.71 Mb

Pubmed search

[1]

[2]

Sodium channel, nonvoltage-gated 1, beta (Liddle syndrome), also known as SCNN1B, is a human gene.^[1]

[edit] References

^ Entrez Gene: SCNN1B sodium channel, nonvoltage-gated 1, beta (Liddle syndrome).

[edit] 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.