Genes linked to MH

1. Ryanodine receptor 1 (skeletal); RYR1

RYR1, chromosomal location 19q13.1, encodes the skeletal muscle ryanodine receptor isoform. This protein forms the monomeric subunits of the tetrameric calcium release channel of skeletal muscle sarcoplasmic reticulum. The gene encompasses 158 Kb gDNA and contains 106 exons with the cDNA (~15 Kb) encoding a protein monomer of 5038 amino acids with a mass of 563,584 Da.

2. Calcium channel, voltage-dependent, L type, alpha 1S subunit; CACNA1S 

CACNA1S, chromosomal location 1q32, encodes the pore-forming subunit of the pentameric calcium channel/voltage sensor of the skeletal muscle sarcoplasmic membrane. The gene encompasses 73 Kb gDNA and contains 44 exons with the cDNA (~ 5.6 Kb) encoding a protein of 1873 amino acids with a mass of 212,350 Da.

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