GENE NAME | CHRNE |
CHROMOSOME | 17 |
ENSEMBL ID | ENSG00000108556 |
ENTREZ ID | 1145 |
UNIPROT ACCESSION NUMBER | Q04844 |
GO MOLECULAR FUNCTION | cation transmembrane transporter activity; acetylcholine receptor activity; acetylcholine-gated cation-selective channel activity |
ESSENTIAL IN MOUSE | Non-essential |
PATHWAYS | R-HSA-112314; R-HSA-629587; R-HSA-622323; R-HSA-622327; R-HSA-181431; R-HSA-112315; R-HSA-112316; hsa04080 |
1 combination linked to CHRNE | OLI330 |
1 variant linked to CHRNE | CHRNE:c.472_473insGGGGTCTGCA, p.Asp158GlyfsTer47 |
1 disease linked to CHRNE | Amyotrophic lateral sclerosis |