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Most endometrial cancers and a few cases of colorectal, liver and thyroid cancers showed weak to moderate cytoplasmic immunoreactivity. The remaining tumors were generally negative.
GENE INFORMATION
Gene name
RYR2 (HGNC Symbol)
Synonyms
ARVC2, ARVD2, VTSIP
Description
Ryanodine receptor 2 (cardiac) (HGNC Symbol)
Entrez gene summary
This gene encodes a ryanodine receptor found in cardiac muscle sarcoplasmic reticulum. The encoded protein is one of the components of a calcium channel, composed of a tetramer of the ryanodine receptor proteins and a tetramer of FK506 binding protein 1B proteins, that supplies calcium to cardiac muscle. Mutations in this gene are associated with stress-induced polymorphic ventricular tachycardia and arrhythmogenic right ventricular dysplasia. [provided by RefSeq, Jul 2008]