Version 2.78

Description

The CAV3 gene (caveolin 3) [HGNC Gene ID:1529] is located on chromosome 3p25. This gene encodes a caveolin family member, which functions as a component of the caveolae plasma membranes found in most cell types. Caveolin proteins are proposed to be scaffolding proteins for organizing and concentrating certain caveolin-interacting molecules. Mutations identified in this gene lead to interference with protein oligomerization or intra-cellular routing, disrupting caveolae formation and resulting in Limb-Girdle muscular dystrophy type-1C (LGMD-1C), hyperCKemia or rippling muscle disease (RMD). Alternative splicing has been identified for this locus, with inclusion or exclusion of a differentially spliced intron. In addition, transcripts utilize multiple polyA sites and contain two potential translation initiation sites. [provided by RefSeq, Jul 2008] [NCBI Gene ID:859] 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
CAV3 gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2009-03-31
Construct for LOINC Short Name
CAV3 gene

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
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Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) CAV3 基因
Synonyms: caveolin-3;CAV3;窑蛋白-3;窑蛋白-3 基因;心脏钠通道功能异常;为长QT综合征
et-EE Estonian (Estonia) CAV3 geen
es-ES Spanish (Spain) Gen CAV3
it-IT Italian (Italy) CAV3, gene
Synonyms: Gene CAV3
tr-TR Turkish (Turkey) CAV3 geni
ru-RU Russian (Russian Federation) CAV3 ген
nl-NL Dutch (Netherlands) CAV3-gen
Synonyms: CAV3 gen