Biology:ANO3
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Revision as of 21:46, 30 April 2022 by imported>Gametune (add)
Short description: Protein-coding gene in the species Homo sapiens
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". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=63982.
- ↑ "Anoctamins are a family of Ca2+-activated Cl+− channels". Journal of Cell Science 125 (21): 4991–4998. 2012. doi:10.1242/jcs.109553. PMID 22946059.
- ↑ "Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis". American Journal of Human Genetics 91 (6): 1041–1050. 2012. doi:10.1016/j.ajhg.2012.10.024. PMID 23200863.
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