ANO1 Chromosome 11
Anoctamin 1
Upload your DNA to see your personal genotypes for variants in ANO1.
What This Gene Does
Enables identical protein binding activity; iodide transmembrane transporter activity; and ligand-gated monoatomic ion channel activity. Involved in several processes, including monoatomic anion transport; mucus secretion; and positive regulation of insulin secretion involved in cellular response to glucose stimulus. Located in apical plasma membrane and nucleoplasm. Implicated in Moyamoya disease. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Anoctamins
Locus Type
gene with protein product
Location
11q13.3
Ensembl
ENSG00000131620
Associated Conditions (2)
ANO1-related fatal neonatal disease due to impaired chloride currents
Moyamoya disease 7
Key Variants
RS2135625521
Likely pathogenic
ANO1-related fatal neonatal disease due to impaired chloride currents, ANO1-related fatal neonatal disease due to impaired chloride currents
Health Risk
RS2497233087
Pathogenic
Moyamoya disease 7, Moyamoya disease 7
Health Risk
RS2497302924
Pathogenic
Moyamoya disease 7, Moyamoya disease 7
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2135625521 | Health Risk | Likely pathogenic | ANO1-related fatal neonatal disease due to impaired chloride currents, ANO1-related fatal neonatal disease due to impaired chloride currents |
| RS2497233087 | Health Risk | Pathogenic | Moyamoya disease 7, Moyamoya disease 7 |
| RS2497302924 | Health Risk | Pathogenic | Moyamoya disease 7, Moyamoya disease 7 |