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ANO10
anoctamin 10
The ANO10 gene provides instructions for making the anoctamin 10 protein, which is involved in cellular processes and implicated in certain neurological conditions, particularly ataxia. Mutations in the ANO10 gene are associated with inherited forms of ataxia, a group of disorders affecting coordination, balance, and speech.
ANO10 is located on the short (p) arm of chromosome 3, at band 3p22.1-p21.33. Arm ratio per GRCh38 - banding schematic.
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Overview
The ANO10 gene, also known as anoctamin 10, plays a role in various cellular functions, though its exact molecular mechanism is still being actively researched. Located on chromosome 3, variants within this gene have been linked to inherited neurological conditions, primarily a type of ataxia referred to as autosomal recessive cerebellar ataxia type 10.
Jeen Health provides carrier screening and cancer screening services, offering insights into genes like ANO10. Our services include support from accredited UK laboratories and genetic counsellors, adhering to NHS Genomic Medicine Service pathways.
What the gene does
The ANO10 gene encodes a protein belonging to the anoctamin family, which are generally known to function as calcium-activated chloride channels. While other anoctamins have well-established roles in ion transport across cell membranes, the specific function of anoctamin 10 is less well-defined. Research suggests it may be involved in intracellular signalling, membrane excitability, and potentially lipid scrambling, contributing to various cellular activities. Its involvement in neuronal function is indicated by its association with neurological disorders, suggesting a critical role in maintaining cerebellar health and overall neurological coordination.
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Chromosome location
The ANO10 gene is situated on the long arm of chromosome 3, specifically within the region designated 3p22.1-p21.33. This locus indicates its position on the human genome, where it contains the genetic instructions for the anoctamin 10 protein. The precise organisation of its regulatory elements and coding sequences within this region is key to its proper expression.
Protein structure
The ANO10 protein consists of 660 amino acids. Domain architecture has not been experimentally characterised in detail for this protein.
Key variants
Genetic variations within the ANO10 gene can lead to alterations in the anoctamin 10 protein, potentially impairing its normal function. These alterations might include changes to the protein's structure or its ability to interact with other molecules, leading to disrupted cellular processes implicated in neurological conditions. The impact of specific variants can range from mild effects to significant dysfunction, contributing to the variability observed in associated disorders.
Sample of pathogenic variants
10 pathogenic / likely-pathogenic variants from ClinVar, ranked by review status (expert-panel-reviewed first). This is a sample; recurrent founder variants in a specific population may not appear here - see the full ClinVar listing via the link above.
| Variant (HGVS) | Protein change | Classification | Evidence | Associated condition |
|---|---|---|---|---|
c.1056dup | p.Glu353Ter | Pathogenic/Likely pathogenic | ★★☆☆ | Autosomal recessive spinocerebellar ataxia 10 |
c.1121_1145del | p.Asn374fs | Pathogenic/Likely pathogenic | ★★☆☆ | Autosomal recessive spinocerebellar ataxia 10 |
c.1218+1G>C | - | Pathogenic/Likely pathogenic | ★★☆☆ | not provided |
c.1244C>G | p.Ser415Ter | Pathogenic | ★★☆☆ | Autosomal recessive spinocerebellar ataxia 10 |
c.1519del | p.Tyr507fs | Pathogenic/Likely pathogenic | ★★☆☆ | Autosomal recessive spinocerebellar ataxia 10 |
c.1585G>T | p.Glu529Ter | Pathogenic | ★★☆☆ | not provided |
c.1760C>G | p.Ser587Ter | Pathogenic/Likely pathogenic | ★★☆☆ | not provided |
c.472+1G>T | - | Pathogenic/Likely pathogenic | ★★☆☆ | not provided |
c.710G>A | p.Trp237Ter | Pathogenic | ★★☆☆ | Autosomal recessive spinocerebellar ataxia 10 |
c.986C>G | p.Ser329Ter | Pathogenic/Likely pathogenic | ★★☆☆ | Autosomal recessive spinocerebellar ataxia 10 |
Evidence stars indicate ClinVar review status. Individual variant interpretation should always be performed by a qualified clinical laboratory - many variants remain classified as Variants of Uncertain Significance (VUS) pending more research.
Associated conditions
Pathogenic variants in the ANO10 gene are primarily associated with hereditary ataxia, including conditions classified under ataxia and cerebellar anomalies. These neurological disorders typically present with impaired coordination, balance difficulties, and speech problems. The specific condition, autosomal recessive cerebellar ataxia type 10, is directly linked to ANO10 dysfunction, highlighting the gene's critical role in cerebellar health.
No disease links recorded for this gene in our reference set.
UK clinical status
The ANO10 gene is recognised within the UK's NHS Genomic Medicine Service pathways. It is included on several green-rated PanelApp panels, indicating strong evidence for its association with specific conditions. These panels include "Ataxia and cerebellar anomalies - narrow panel", "Hereditary ataxia", "Hereditary ataxia with onset in adulthood", "Likely inborn error of metabolism" and "Undiagnosed metabolic disorders".
Sources: NHS GMS PanelApp · Genomics England PanelApp · NHS National Genomic Test Directory
Frequently asked questions
What is the main function of the ANO10 gene?
The ANO10 gene produces the anoctamin 10 protein, which is believed to function as a calcium-activated chloride channel. It plays a role in cellular processes, including membrane excitability and intracellular signalling, particularly in the brain.
What conditions are associated with ANO10 variants?
Variants in the ANO10 gene are primarily associated with hereditary ataxias, specifically autosomal recessive cerebellar ataxia type 10. These conditions affect coordination, balance, and speech due to cerebellar dysfunction.
How is ANO10 relevant to UK genetic testing?
In the UK, the ANO10 gene is included in several NHS Genomic Medicine Service PanelApp panels, such as those for "Ataxia and cerebellar anomalies" and "Hereditary ataxia". This indicates its importance in diagnosing inherited neurological conditions within the UK healthcare system.