Details for Gene CHRNB1

GENE NAME CHRNB1
CHROMOSOME 17
ENSEMBL ID ENSG00000170175
ENTREZ ID 1140
UNIPROT ACCESSION NUMBER P11230
GO MOLECULAR FUNCTION ligand-gated ion channel activity; protein binding; acetylcholine binding; acetylcholine-gated cation-selective channel activity
ESSENTIAL IN MOUSE Non-essential
PATHWAYS hsa04080
1 combination linked to CHRNB1 OLI332
2 variants linked to CHRNB1 CHRNB1:c.42_44del, p.14_15del; CHRNB1:c.44_45insAA, p.Ala15fs
1 disease linked to CHRNB1 Amyotrophic lateral sclerosis

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