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
[edit]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
[edit]- ↑ "Entrez Gene: ANO3".
- ↑ Tian Y, Schreiber R, Kunzelmann K (2012). "Anoctamins are a family of Ca2+-activated Cl+− channels". Journal of Cell Science. 125 (21): 4991–4998. doi:10.1242/jcs.109553. PMID 22946059.
- ↑ Charlesworth G, Plagnol V, Holmström KM, Bras J, Sheerin UM, Preza E, Rubio-Agusti I, Ryten M, Schneider SA, Stamelou M, Trabzuni D, Abramov AY, Bhatia KP, Wood NW (2012). "Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis". American Journal of Human Genetics. 91 (6): 1041–1050. doi:10.1016/j.ajhg.2012.10.024. PMC 3516598. PMID 23200863.
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