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 |