rs730880425
This variant is located in the CAV3 gene.
▶ClinVar annotation
not specified; not provided; Cardiovascular phenotype
View on ClinVar →▶Research that mentions this SNP (1)
▶Genomic Structure of Three Long QT Syndrome Genes:KVLQT1, HERG,andKCNE1ReviewIgor Splawski et al.(1998)· Genomics
This comprehensive review examines clinical and genetic features of congenital long QT syndrome (LQTS), a rare cardiac ion channel disorder. The paper describes 16 distinct genetic types caused by mutations in genes encoding potassium, sodium, and calcium channel subunits (KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2, KCNJ2, KCNJ5, ANK2, CACNA1C, CAV3, SCN4B, SNTA1, AKAP9, CALM1, CALM2, CALM3), along with associated clinical presentations, molecular mechanisms, and gene-specific treatment approaches including beta-blockers, mexiletine for LQTS type 3, and left cardiac sympathetic denervation.
About CAV3
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]
View all CAV3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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