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 is a member of a family of calcium-activated chloride channels. Defects in this gene may be a cause of autosomal recessive spinocerebellar ataxia-10. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2011]

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, which is the short (p) arm of chromosome 3 at position 22.1

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, which is the short (p) arm of chromosome 3 at position 22.1
  • SCAR10
  • TMEM16K