GENE NAME | ANO5 |
CHROMOSOME | 11 |
ENSEMBL ID | ENSG00000171714 |
ENTREZ ID | 203859 |
UNIPROT ACCESSION NUMBER | Q75V66 |
GO MOLECULAR FUNCTION | chloride channel activity; protein dimerization activity; intracellular calcium activated chloride channel activity |
ESSENTIAL IN MOUSE | None |
PATHWAYS | R-HSA-382551; R-HSA-983712; R-HSA-2672351 |
2 combinations linked to ANO5 | OLI016; OLI017 |
3 variants linked to ANO5 | ANO5:c.2141C>G, p.Thr714Ser; ANO5:c.191dup, p.Asn64LysfsTer15; ANO5:c.2272C>T, p.Arg758Cys |
1 disease linked to ANO5 | Limb-girdle muscular dystrophy |