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FLASH GENE

Symbol

CASQ1

contributors: mct - updated : 09-05-2016

HGNC name	calsequestrin 1 (fast-twitch, skeletal muscle)
HGNC id	1512

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

VMCQA

related resource

MITOP database

Susceptibility

to type 2 diabetes to Graves ophthalmopathy (GO) to malignant hyperthermia

Variant & Polymorphism SNP	increasing the risk of of type 2 diabetes
	SNPs rs74123279, rs3838216, and rs2275703 may be considered as genetic markers for GO
	M87T "variant" is weakly associated with malignant hyperthermia

Candidate gene	potential candidate gene for linkage analysis in families with malignant hyperthermia/environmental heat stroke where mutations in the RYR1 gene are excluded (Dainese 2009)
Marker
Therapy target

ANIMAL & CELL MODELS

CASQ1-null mice exhibit increased spontaneous mortality and susceptibility to heat- and anesthetic-induced sudden death (Dainese 2009)