ANO3
ANO3 is a gene that in humans is located on chromosome 11 and encodes the protein anoctamin 3.[1] It belongs to a family of genes (ANO1–ANO10) that appear to encode calcium-activated chloride channels.[2]
Clinical significance
Mutations in ANO3 have been linked to a form of autosomal dominant cranio-cervical dystonia (also known as
DYT23), which presents as abnormal twisting or tremulous movements of the face, voice, head and upper limbs.[3]
References
- ^ "Entrez Gene: ANO3".
- PMID 22946059.
- PMID 23200863.
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