LP35855-3
CAPN3 gene
Active
Description
The CAPN3 gene (calpain 3, (p94)) [HGNC Gene ID:1480] is located on chromosome 15q15.1. Calpain, a heterodimer consisting of a large and a small subunit, is a major intracellular protease, although its function has not been well established. This gene encodes a muscle-specific member of the calpain large subunit family that specifically binds to titin. Mutations in this gene are associated with limb-girdle muscular dystrophies type 2A. Alternate promoters and alternative splicing result in multiple transcript variants encoding different isoforms and some variants are ubiquitously expressed. [provided by RefSeq, Jul 2008] [NCBI Gene ID:825] 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
- CAPN3 gene
- Part Display Name
- CAPN3 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2005-07-11
- Construct for LOINC Short Name
- CAPN3 gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | CAP3 基因 Synonyms: calpain 3, (p94); |
| et-EE | Estonian (Estonia) | CAPN3 geen |
| es-ES | Spanish (Spain) | Gen CAPN3 |
| it-IT | Italian (Italy) | CAPN3, gene Synonyms: Gene CAPN3 |
| tr-TR | Turkish (Turkey) | CAPN3 geni |
| ru-RU | Russian (Russian Federation) | CAPN3 ген |
| nl-NL | Dutch (Netherlands) | CAPN3-gen Synonyms: CAPN3 gen |
| fr-FR | French (France) | CAPN3 gène |
| pl-PL | Polish (Poland) | CAPN3 gen Synonyms: Gen CAPN3 |
| el-GR | Greek (Greece) | Γονίδιο CAPN3 Synonyms: Γονίδιο CAPN3 |
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://