ACCN1

Amiloride-sensitive cation channel 1, neuronal
Identifiers
Symbols ACCN1; ACCN; ASIC2; ASIC2a; BNC1; BNaC1; MDEG; hBNaC1
External IDs OMIM601784 MGI1100867 HomoloGene90965 GeneCards: ACCN1 Gene
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez 40 11418
Ensembl ENSG00000108684 ENSMUSG00000020704
UniProt Q16515 Q78E63
RefSeq (mRNA) NM_001094.4 XM_001001839
RefSeq (protein) NP_001085.2 XP_001001839
Location (UCSC) Chr 17:
31.34 – 32.48 Mb
Chr 11:
80.7 – 81.78 Mb
PubMed search [1] [2]

Amiloride-sensitive cation channel 1, neuronal is a protein that in humans is encoded by the ACCN1 gene.[1][2]

Contents

Function

This gene encodes a member of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. The members of this family are amiloride-sensitive sodium channels that contain intracellular N and C termini, 2 hydrophobic transmembrane regions, and a large extracellular loop, which has many cysteine residues with conserved spacing. The member encoded by this gene may play a role in neurotransmission. In addition, a heteromeric association between this member and ACCN3 (variant 1) has been observed to co-assemble into proton-gated channels sensitive to gadolinium. Alternative splicing has been observed at this locus and two variants, encoding distinct isoforms, have been identified.[2]

See also

References

  1. ^ Waldmann R, Voilley N, Mattei MG, Lazdunski M (Feb 1997). "The human degenerin MDEG, an amiloride-sensitive neuronal cation channel, is localized on chromosome 17q11.2-17q12 close to the microsatellite D17S798". Genomics 37 (2): 269–70. doi:10.1006/geno.1996.0558. PMID 8921408. 
  2. ^ a b "Entrez Gene: ACCN1 amiloride-sensitive cation channel 1, neuronal (degenerin)". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=40. 

Further reading