ANO10 Antibody – Mouse Monoclonal

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]

ANO10: May act as a calcium-activated chloride channel. Defects in ANO10 are the cause of spinocerebellar ataxia autosomal recessive type 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. Belongs to the anoctamin family. 4 isoforms of the human protein are produced by alternative splicing.

Protein type: Transporter, ion channel; Membrane protein, integral; Transporter; Membrane protein, multi-pass

Chromosomal Location of Human Ortholog: 3p22.1

Cellular Component: membrane; integral to membrane; plasma membrane; intracellular

Molecular Function: intracellular calcium activated chloride channel activity; calcium activated cation channel activity

Biological Process: chloride transport; transmembrane transport; cation transport

Disease: Spinocerebellar Ataxia, Autosomal Recessive 10