Results for the protein: P21817

Results for the Protein: P21817

108935904

6261

RYR1

NCBI, UniProt

RYR1_HUMAN RecName: Full=Ryanodine receptor 1; Short=RYR-1; Short=RyR1; AltName: Full=Skeletal muscle calcium release channel; AltName: Full=Skeletal muscle ryanodine receptor; AltName: Full=Skeletal muscle-type ryanodine receptor; AltName: Full=Type 1 ryanodine receptor

Known Diseases associated with this Protein:
  CENTRAL CORE DISEASE
  CENTRAL CORE DISEASE OF MUSCLE (CCD)
  CENTRAL CORE DISEASE, AUTOSOMAL RECESSIVE
  CENTRAL CORE DISEASE, INCLUDED
  KING-DENBOROUGH SYNDROME
  MALIGNANT HYPERTHERMIA 1 (MHS1)
  MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1
  MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1, INCLUDED
  MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA
  MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, INCLUDED
  MULTIMINICORE DISEASE WITH EXTERNAL OPHTHALMOPLEGIA (MMDO)
  MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION (CFTD)
  NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, INCLUDED

157

25

27

0

155

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