ANO3 gene

anoctamin 3

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

The protein encoded by this gene belongs to the TMEM16 family of predicted membrane proteins, that are also known as anoctamins. While little is known about the function of this gene, mutations in this gene have been associated with some cases of autosomal dominant craniocervical dystonia. Cells from individuals with a mutation in this gene exhibited abnormalities in endoplasmic reticulum-dependent calcium signaling. Studies in rat show that the rat ortholog of this protein interacts with, and modulates the activity of a sodium-activated potassium channel. Deletion of this gene caused increased pain sensitivity in the rat model system. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]

From UniProt:

Has calcium-dependent phospholipid scramblase activity; scrambles phosphatidylcholine and galactosylceramide. Seems to act as potassium channel regulator and may inhibit pain signaling; can facilitate KCNT1/Slack channel activity by promoting its full single-channel conductance at very low sodium concentrations and by increasing its sodium sensitivity (By similarity). Does not exhibit calcium-activated chloride channel (CaCC) activity.

From NCBI Gene:

  • Dystonia 24

From UniProt:

Dystonia 24 (DYT24): A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT24 is an autosomal dominant focal dystonia affecting the neck, laryngeal muscles, and muscles of the upper limbs. [MIM:615034]

Cytogenetic Location: 11p14.3-p14.2, which is the short (p) arm of chromosome 11 between positions 14.3 and 14.2

Molecular Location: base pairs 26,189,123 to 26,663,289 on chromosome 11 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 11p14.3-p14.2, which is the short (p) arm of chromosome 11 between positions 14.3 and 14.2
  • C11orf25
  • DYT23
  • DYT24
  • GENX-3947
  • TMEM16C