Gene: LOC107985290

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: RYR1

Alternate names for this Gene: CCO|MHS|MHS1|PPP1R137|RYDR|RYR|RYR-1|SKRR

Gene Summary: This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene are associated with malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. Alternatively spliced transcripts encoding different isoforms have been described.

Gene is located in Chromosome: 19

Location in Chromosome : 19q13.2

Description of this Gene: ryanodine receptor 1

Type of Gene: protein-coding

rs763259167 in LOC107985290;RYR1 gene and Malignant hyperthermia susceptibility type 1 PMID 23558838 2013 Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States.

PMID 26115329 2015 Divergent Activity Profiles of Type 1 Ryanodine Receptor Channels Carrying Malignant Hyperthermia and Central Core Disease Mutations in the Amino-Terminal Region.

PMID 8012359 1994 Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: implications for diagnosis and heterogeneity studies.

PMID 15448513 2004 Malignant hyperthermia in North America: genetic screening of the three hot spots in the type I ryanodine receptor gene.

PMID 26381711 2015 Several Ryanodine Receptor Type 1 Gene Mutations of p.Arg2508 Are Potential Sources of Malignant Hyperthermia.

PMID 1774074 1991 A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia.

PMID 7751854 1995 Ryanodine receptor gene point mutation and malignant hyperthermia susceptibility.

PMID 12123492 2002 Novel skeletal muscle ryanodine receptor mutation in a large Brazilian family with malignant hyperthermia.

PMID 14985404 2004 RYR1 mutations in UK central core disease patients: more than just the C-terminal transmembrane region of the RYR1 gene.

PMID 9066328 1997 Identification of heterozygous and homozygous individuals with the novel RYR1 mutation Cys35Arg in a large kindred.

PMID 7849712 1994 Detection of a novel RYR1 mutation in four malignant hyperthermia pedigrees.

PMID 20681998 2011 Novel missense mutations and unexpected multiple changes of RYR1 gene in 75 malignant hyperthermia families.

PMID 9450902 1998 Novel mutations at a CpG dinucleotide in the ryanodine receptor in malignant hyperthermia.

PMID 8220423 1993 Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia.

PMID 11525881 2001 Identification and functional characterization of a novel ryanodine receptor mutation causing malignant hyperthermia in North American and South American families.

PMID 11928716 2002 Novel mutations in C-terminal channel region of the ryanodine receptor in malignant hyperthermia patients.

PMID 12059893 2002 Mutation screening in the ryanodine receptor 1 gene (RYR1) in patients susceptible to malignant hyperthermia who show definite IVCT results: identification of three novel mutations.

PMID 12208234 2002 Mutations in the RYR1 gene in Italian patients at risk for malignant hyperthermia: evidence for a cluster of novel mutations in the C-terminal region.

PMID 11389482 2001 Single-amino-acid deletion in the RYR1 gene, associated with malignant hyperthermia susceptibility and unusual contraction phenotype.

PMID 11575529 2001 North American malignant hyperthermia population: screening of the ryanodine receptor gene and identification of novel mutations.