Protein-coding gene in the species Homo sapiens
From Wikipedia, the free encyclopedia
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]
