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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

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

SCA16 , SCA15 , GLSPS2 , CLA4

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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
	System Type Disorder Pubmed miscelleaneous pain   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