Disease-gene associations mined from literature

Literature associating TRDN and congenital fiber-type disproportion

TRDN [ENSP00000439281]

Triadin; Contributes to the regulation of lumenal Ca2+ release via the sarcoplasmic reticulum calcium release channels RYR1 and RYR2, a key step in triggering skeletal and heart muscle contraction. Required for normal organization of the triad junction, where T-tubules and the sarcoplasmic reticulum terminal cisternae are in close contact (By similarity). Required for normal skeletal muscle strength. Plays a role in excitation- contraction coupling in the heart and in regulating the rate of heart beats.

Synonyms:  TRDN,  H9ME53,  Q13061,  Q5SWK9,  H9ME53p ...

Linkouts:  STRING  Pharos  UniProt