Entity Details

Primary name ANO10
Entity type gene
Source Source Link

Details

PrimaryID55129
RefseqGeneNG_028216
SymbolANO10
Nameanoctamin 10
Chromosome3
Location3p22.1-p21.33
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-07-03
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsANO10_HUMAN

GO terms

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GOName
GO:0005227 calcium activated cation channel activity
GO:0005229 intracellular calcium activated chloride channel activity
GO:0005886 plasma membrane
GO:0006812 cation transport
GO:0006821 chloride transport
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0034220 ion transmembrane transport
GO:0043231 intracellular membrane-bounded organelle
GO:0055085 transmembrane transport

Diseases

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Disease IDSourceNameDescription
613728 OMIMSpinocerebellar ataxia, autosomal recessive, 10 (SCAR10)A form of spinocerebellar ataxia, 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. The disease is caused by variants affecting the gene represented in this entry.