LP94500-3
CAV3 gene
Active
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
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- CodeSystem lookup
- https:
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Language Variants Get Info
Tag | Language | Translation |
---|---|---|
zh-CN | Chinese (China) | CAV3 基因 Synonyms: caveolin-3; |
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 |
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