LP97961-4
RYR1 gene
Active
Description
The RYR1 gene (ryanodine receptor 1 (skeletal)) [HGNC Gene ID:10483] is located on chromosome 19q13.1. 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. [provided by RefSeq, Jul 2008] [NCBI Gene ID:6261] Source: National Center for Biotechnology Information (NCBI) Gene
Reference Information
| Type | Source | Reference |
|---|---|---|
| Webcontent | Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. | Link to OMIM |
Basic Part Properties
- Part Name
- RYR1 gene
- Part Display Name
- RYR1 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2009-11-18
- Construct for LOINC Short Name
- RYR1 gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
Requests to this service require a free LOINC username and password. Below is a sample of the possible capabilities. See the LOINC Terminology Service documentation for more information.
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | RYR1 基因 Synonyms: ryanodine receptor 1; |
| et-EE | Estonian (Estonia) | RYR1 geen |
| es-ES | Spanish (Spain) | Gen RYR1 |
| it-IT | Italian (Italy) | RYR1, gene Synonyms: Gene RYR1 |
| tr-TR | Turkish (Turkey) | RYR1 geni |
| ru-RU | Russian (Russian Federation) | RYR1 ген |
| nl-NL | Dutch (Netherlands) | RYR1-gen Synonyms: RYR1 gen |
| fr-FR | French (France) | RYR1 gène |
| pl-PL | Polish (Poland) | RYR1 gen Synonyms: Gen RYR1 |
| el-GR | Greek (Greece) | Γονίδιο RYR1 Synonyms: Γονίδιο RYR1 |
LOINC Copyright
Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://