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FLASH GENE
Symbol ITPR1 contributors: mct/npt - updated : 25-05-2016
HGNC name inositol 1,4,5-triphosphate receptor, type 1
HGNC id 6180
ASSOCIATED DISORDERS
corresponding disease(s) SCA16 , SCA15 , GLSPS2 , CLA4
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --low  
in neurodegenerative disease (olivopontocerebellar atrophy, cerebellar atrophy of Holmes type, Alzheimers disease, Friedreich's ataxia, cerebellopontine ataxia)
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
SystemTypeDisorderPubmed
miscelleaneouspain 
CA8 and ITPR1 represent new therapeutic targets for chronic pain
ANIMAL & CELL MODELS
  • mice with complete homozygosity for Itpr1 ablation suffer from severe epilepsy and ataxia and die either in utero or before weaning