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".
- ^ 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.
Categories:
- Genes on human chromosome 11
- Human chromosome 11 gene stubs