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FLASH GENE

Symbol

RYR1

contributors: mct - updated : 31-08-2018

HGNC name	ryanodine receptor 1 (skeletal)
HGNC id	10483

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

CCO , MHS1 , MMDO

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       loss of function altered RYR1 function may contribute to the neurodegeneration in Huntington disease constitutional germinal mutation       associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome

Susceptibility

to aneurysmatic subarachnoid hemorrhage

Variant & Polymorphism other	rare RYR1 variants in patients suffering from aneurysmatic subarachnoid hemorrhage

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed neuromuscular     RyR activity may not be irreversibly damaged in patients with SEPN1-associated disease and might provide a target for therapeutic intervention neurology     altered RYR function is involved in neuronal cell death, and its stabilization might be beneficial for treatment of Huntington disease (dantrolene or other similar RYR inhibitors may be beneficial for HD patients)

ANIMAL & CELL MODELS