Gene: [19q131/RYR1] ryanodine receptor 1 (skeletal muscle; calcium release channel); Ca++ release channel of sarcoplasmic reticulum; malignant hyperthermia susceptibility 1 (King syndrome; MHS1; MIM:145600); central core disease of muscle (CCO; MIM:117000); [MHS1 CCO ]


FAG

The homologous RYR genes have been mapped to Chr 1q4 (GEM:01q4/RYR2) and Chr 15q1 (GEM:15q1/RYR3)."

CAG

There are six genetic forms of MHS: MHS1, MHS2 (GEM:17q/MHS2), MHS3 (GEM:07q/CACNA2), MHS4 (GEM:03q131/MHS4), MHS5 (GEM:01q32/CACNA1S), and MHS6 (GEM:05p1/MHS6)."

MUT

Mutations in the RYR1 locus cause myopathy with postanesthetic malignant hyperthermia syndrome and myopathy with focal amorphic destruction of muscle fibers (central core disease of muscle)."

PRO

Gene-specific DNA probe pHRR-XH-1 is a 1001 bp fragment corresponding to the region of nucleotides 8550-9550 of RYR cDNA (Zorzato-1990) and cloned at XhoI/HindIII sites in the vector bluescript."

POL

BamHI A-RFLP: allele A1= duple 13.5+4.5 kb (popul freq= 0.25); A2= 18 kb/(0.75) (MacKenzie-1990; Probe 1)."

MAP

Loci: GEM:19q132/APOC2; GEM:19q133/CKM; GEM:19q133/DMPK.
[1] qc-RYR1-D19S8-D19S16-D19S37-APOC2-CKM-DMPK (MacKenzie-1990)."

LIN

[1] The MHS1 syndrome is also linked to cytochrome P450-IIA gene (GEM:19q132/CYP2A6): the maximal lod score at teta = 0.0 cM is 4.7 (McCarthy-1989) to 5.65 (McCarthy-1990).
[2] Linkage of MHS1 with the hormone-sensitive lipase gene (GEM:19q13/LIPE) is also assumed. This assumption is based on (1) disturbance of fatty acid metabolism in MHS and (2) data on linkage of MHS and hormone-sensitive lipase with the same markers."

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KEY

recp, myo

CLA

coding, basic

LOC

19 q13.1

MIM

MIM: 180901

SYN

MHS1 CCO

Смотрите также:

  • RYR1 ген кальциевого канала саркоплазматического ретикулума скелетных мышц (рианодиновый рецептор)
  • Ген рецептора кальция (Ca2+)
  • RyR1 рецептор
  • HUGEN-рецепторы, являющиеся ионными каналами
  • HUGEN-Рецептор рианодиновый