LOINC
Version 2.73

LP94500-3CAV3 geneActive

Descriptions

LP94500-3   CAV3 gene
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LP94500-3   CAV3 gene
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

Basic Part Properties

Name
CAV3 gene
Type
Component
Created On
2009-03-31
Construct for LOINC Short Name
CAV3 gene

LOINC FHIR® API Example - CodeSystem Request Get Info

https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP94500-3

Language Variants Get Info

zh-CNChinese (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
nl-NLDutch (Netherlands)
CAV3-gen
Synonyms: CAV3 gen
et-EEEstonian (Estonia)
CAV3 geen
it-ITItalian (Italy)
CAV3, gene
Synonyms: Gene CAV3
ru-RURussian (Russian Federation)
CAV3 ген
es-ESSpanish (Spain)
Gen CAV3
tr-TRTurkish (Turkey)
CAV3 geni