ACCN1

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Acid-sensing (proton-gated) ion channel 2
Identifiers
Symbols ASIC2 ; ACCN; ACCN1; ASIC2a; BNC1; BNaC1; MDEG; hBNaC1
External IDs OMIM601784 MGI1100867 HomoloGene137202 IUPHAR: ChEMBL: 1628467 GeneCards: ASIC2 Gene
RNA expression pattern
PBB GE ACCN1 206690 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 40 11418
Ensembl ENSG00000108684 ENSMUSG00000020704
UniProt Q16515 Q925H0
RefSeq (mRNA) NM_001094 NM_001034013
RefSeq (protein) NP_001085 NP_001029185
Location (UCSC) Chr 17:
31.34 – 32.5 Mb
Chr 11:
80.88 – 81.97 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]

Function[edit]

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[edit]

References[edit]

  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)". 

Further reading[edit]