ANO3
Description
The ANO3 (anoctamin 3) is a protein-coding gene located on chromosome 11.
ANO3 is a human gene located on chromosome 11. It encodes the protein anoctamin 3, a member of the ANO1–ANO10 gene family, which is believed to encode calcium-activated chloride channels. Mutations in ANO3 have been linked to autosomal dominant cranio-cervical dystonia (DYT23), characterized by abnormal movements in the face, voice, head, and upper limbs.
ANO3 exhibits calcium-dependent phospholipid scramblase activity, scrambling phosphatidylcholine and galactosylceramide. It functions as a potassium channel regulator, potentially inhibiting pain signaling. ANO3 can facilitate KCNT1/Slack channel activity by promoting full single-channel conductance at low sodium concentrations and enhancing sodium sensitivity. Notably, it does not demonstrate calcium-activated chloride channel (CaCC) activity.
ANO3 is also known as C11orf25, DYT23, DYT24, GENX-3947, TMEM16C.
