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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. Note: This description may include information from UniProtKB.
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| Protein type: Membrane protein, integral; Membrane protein, multi-pass; Transporter; Transporter, ion channel |
| Chromosomal Location of Human Ortholog: 3p22.1-p21.33 |
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Cellular Component: intracellular; membrane; plasma membrane
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Molecular Function: calcium activated cation channel activity; intracellular calcium activated chloride channel activity
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Biological Process: cation transport; chloride transport
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Disease: Spinocerebellar Ataxia, Autosomal Recessive 10
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Reference #:
Q9NW15
(UniProtKB)
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Alt. Names/Synonyms: ANO10; anoctamin 10; Anoctamin-10; FLJ10375; MGC47890; TMEM16K; Transmembrane protein 16K
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Gene Symbols: ANO10
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Molecular weight:
76,329 Da
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Basal Isoelectric point:
7.1
Predict pI for various phosphorylation states
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