Disease-gene associations mined from literature

Literature associating RYR2 and arrhythmogenic right ventricular dysplasia 1

RYR2 [ENSP00000355533]

Cardiac muscle ryanodine receptor-calcium release channel; Calcium channel that mediates the release of Ca(2+) from the sarcoplasmic reticulum into the cytoplasm and thereby plays a key role in triggering cardiac muscle contraction. Aberrant channel activation can lead to cardiac arrhythmia. In cardiac myocytes, calcium release is triggered by increased Ca(2+) levels due to activation of the L-type calcium channel CACNA1C. The calcium channel activity is modulated by formation of heterotetramers with RYR3. Required for cellular calcium ion homeostasis. Required for embryonic heart development; Belongs to the ryanodine receptor (TC 1.A.3.1) family. RYR2 subfamily.

Synonyms:  RYR2,  RYR2p,  hRYR2,  D7UNU2,  D7UNU3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM