ANO10 gene

anoctamin 10

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

From NCBI Gene:

The transmembrane protein encoded by this gene belongs to the anoctamin family of calcium-activated chloride channels, also known as the transmembrane 16 family. The encoded protein contains eight transmembrane domains with cytosolic N- and C-termini. Defects in this gene may cause autosomal recessive spinocerebellar ataxia-10. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]

From UniProt:

Does not exhibit calcium-activated chloride channel (CaCC) activity. Can inhibit the activity of ANO1.

From NCBI Gene:

  • Spinocerebellar ataxia, autosomal recessive 10

From UniProt:

Spinocerebellar ataxia, autosomal recessive, 10 (SCAR10): Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR10 is characterized by onset in the teenage or young adult years of gait and limb ataxia, dysarthria, and nystagmus associated with marked cerebellar atrophy on brain imaging. [MIM:613728]

Cytogenetic Location: 3p22.1-p21.33, which is the short (p) arm of chromosome 3 between positions 22.1 and 21.33

Molecular Location: base pairs 43,366,324 to 43,691,594 on chromosome 3 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 3p22.1-p21.33, which is the short (p) arm of chromosome 3 between positions 22.1 and 21.33
  • SCAR10
  • TMEM16K