Version 2.78

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 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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP35855-3
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP35855-3

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) CAP3 基因
Synonyms: calpain 3, (p94);CANP3;CANPL3;LGMD2;LGMD2A;MGC10767;MGC11121;MGC14344;MGC4403;nCL-1;肌肉特异性钙激活型中性蛋白酶 3 大亚单位;肌肉特异性钙激活型中性蛋白酶 3 大亚基;肢带 2A 型肌营养不良(常染色体隐性);肢带型肌营养不良症 2A (常染色体隐性);肢带肌肉萎缩 2A (常染色体隐性);肢带肌肉营养不良症 2A (常染色体隐性);肢带肌营养不良 2A (常染色体隐性);肢带肌营养障碍 2A (常染色体隐性);钙活化中
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