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ANO3 ANO3 is a gene that in humans is located on chromosome 11 and encodes the protein anoctamin 3.〔(【引用サイトリンク】 url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=63982 )〕 It belongs to a family of genes (ANO1–ANO10) that appear to encode calcium-activated chloride channels. == Clinical signficance ==
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.
抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)』 ■ウィキペディアで「ANO3」の詳細全文を読む
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