Gene: CAV3

Alternate names for this Gene: LGMD1C|LQT9|MPDT|RMD2|VIP-21|VIP21

Gene Summary: 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.

Gene is located in Chromosome: 3

Location in Chromosome : 3p25.3

Description of this Gene: caveolin 3

Type of Gene: protein-coding

Gene: SSUH2

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

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rs121909280 in CAV3;SSUH2 gene and Cardiomyopathy, Familial Hypertrophic, 1 (disorder) PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

PMID 21267010 2011 Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14).

PMID 14672715 2004 Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy.

PMID 25173338 2014 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).

PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

rs116840795 in CAV3;SSUH2 gene and Long QT Syndrome PMID 15099591 2004 A novel mutation in the caveolin-3 gene causing familial isolated hyperCKaemia.

PMID 27772553 2017 CAV3 mutation in a patient with transient hyperCKemia and myalgia.

PMID 22581547 2012 Myotonia associated with caveolin-3 mutation.

rs199476325 in CAV3;SSUH2 gene and RIPPLING MUSCLE DISEASE 2 (disorder) PMID 27854218 2016 Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.

PMID 15668980 2005 Autosomal recessive rippling muscle disease with homozygous CAV3 mutations.

PMID 12666119 2003 Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease.

PMID 11756609 2001 A sporadic case of rippling muscle disease caused by a de novo caveolin-3 mutation.

PMID 15564037 2004 Two novel CAV3 gene mutations in Japanese families.

PMID 15580566 2005 Molecular and muscle pathology in a series of caveolinopathy patients.

PMID 9537420 1998 Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy.

PMID 12939441 2003 Limb-girdle muscular dystrophy in a 71-year-old woman with an R27Q mutation in the CAV3 gene.

PMID 16458928 2006 A new missense mutation in caveolin-3 gene causes rippling muscle disease.

PMID 12557291 2003 Consequences of a novel caveolin-3 mutation in a large German family.

PMID 11431690 2001 Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease.

PMID 11001938 2000 Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy.

PMID 11532985 2001 The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle.

rs121909281 in CAV3;SSUH2 gene and Sudden infant death syndrome PMID 17275750 2007 Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3.