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, disr... See more...

Aliases for CAV3 Gene

Aliases for CAV3 Gene

  • Caveolin 3 2 3 5
  • M-Caveolin 2 3 4
  • Caveolin-3 3 4
  • Cavolin 3 3
  • LGMD1C 3
  • VIP-21 3
  • VIP21 3
  • LQT9 3
  • MPDT 3
  • RMD2 3

External Ids for CAV3 Gene

Previous GeneCards Identifiers for CAV3 Gene

  • GC03P008704
  • GC03P008750
  • GC03P008709
  • GC03P008775

Summaries for CAV3 Gene

Entrez Gene Summary for CAV3 Gene

  • 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]

GeneCards Summary for CAV3 Gene

CAV3 (Caveolin 3) is a Protein Coding gene. Diseases associated with CAV3 include Rippling Muscle Disease 2 and Myopathy, Distal, Tateyama Type. Among its related pathways are Focal Adhesion and Cardiac conduction. Gene Ontology (GO) annotations related to this gene include enzyme binding and protein C-terminus binding. An important paralog of this gene is CAV1.

UniProtKB/Swiss-Prot Summary for CAV3 Gene

  • May act as a scaffolding protein within caveolar membranes. Interacts directly with G-protein alpha subunits and can functionally regulate their activity. May also regulate voltage-gated potassium channels. Plays a role in the sarcolemma repair mechanism of both skeletal muscle and cardiomyocytes that permits rapid resealing of membranes disrupted by mechanical stress (By similarity). Mediates the recruitment of CAVIN2 and CAVIN3 proteins to the caveolae (PubMed:19262564).

Gene Wiki entry for CAV3 Gene

Additional gene information for CAV3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CAV3 Gene

Genomics for CAV3 Gene

GeneHancer (GH) Regulatory Elements for CAV3 Gene

Promoters and enhancers for CAV3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J008732 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE dbSUPER 514.9 +1.5 1517 5.1 RBM25 PKNOX1 EGR1 ZMYM3 ZFP36 EGR2 ZNF444 CAV3 SSUH2 lnc-SSUH2-7
GH03J008656 Enhancer 1.5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.3 -72.5 -72499 10.6 RXRA CTCF TCF12 SP1 NCOR1 TEAD4 ZNF10 EP300 ZIC2 TCF7 CAV3 LMCD1-AS1 LMCD1 piR-45093-006 lnc-OXTR-1 piR-37026-402 SSUH2
GH03J008628 Enhancer 1.1 Ensembl ENCODE 10 -104.0 -104004 2.4 ZNF217 TCF12 JUND FOS ZNF639 ZBTB11 AFF1 KLF4 KLF7 EP300 CAV3 piR-37026-402 piR-45093-006 lnc-OXTR-1 SSUH2
GH03J008756 Enhancer 0.9 Ensembl ENCODE dbSUPER 11.8 +24.0 24043 2.9 TCF12 FOS MEF2B FOSL1 BATF EBF1 IKZF1 BHLHE40 YY1 DACH1 CAV3 OXTR lnc-RAD18-1 lnc-SSUH2-7 SSUH2
GH03J008709 Enhancer 0.9 Ensembl ENCODE 11.8 -21.9 -21856 4.9 ZNF217 CTCF KLF4 MYC SMC3 CTBP1 ZNF274 RBM25 FOS RAD21 CAV3 piR-45012-326 piR-35674-343 SSUH2 lnc-SSUH2-7
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CAV3 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CAV3

Top Transcription factor binding sites by QIAGEN in the CAV3 gene promoter:
  • MyoD

Genomic Locations for CAV3 Gene

Genomic Locations for CAV3 Gene
chr3:8,733,800-8,841,808
(GRCh38/hg38)
Size:
108,009 bases
Orientation:
Plus strand
chr3:8,775,486-8,883,492
(GRCh37/hg19)
Size:
108,007 bases
Orientation:
Plus strand

Genomic View for CAV3 Gene

Genes around CAV3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CAV3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CAV3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CAV3 Gene

Proteins for CAV3 Gene

  • Protein details for CAV3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P56539-CAV3_HUMAN
    Recommended name:
    Caveolin-3
    Protein Accession:
    P56539
    Secondary Accessions:
    • A8K777
    • Q3T1A4

    Protein attributes for CAV3 Gene

    Size:
    151 amino acids
    Molecular mass:
    17259 Da
    Quaternary structure:
    • Homooligomer. Interacts with DLG1 and KCNA5; forms a ternary complex. Interacts with TRIM72. Interacts with MUSK; may regulate MUSK signaling. Interacts with DAG1 (via its C-terminal); the interaction prevents binding of DAG1 with DMD (PubMed:10988290). Interacts with DYSF (PubMed:11532985). Interacts with BVES (By similarity). Interacts with CAVIN1 and CAVIN2 (PubMed:24567387). Interacts with CAVIN4 (PubMed:24567387, PubMed:11251997).
    SequenceCaution:
    • Sequence=AAC14931.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAF84581.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

neXtProt entry for CAV3 Gene

Post-translational modifications for CAV3 Gene

  • Sumoylation with SUMO3 by PIAS4 may reduce agonist-induced internalization and desensitization of adrenergic receptor ABRD2.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CAV3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CAV3 Gene

Domains & Families for CAV3 Gene

Gene Families for CAV3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for CAV3 Gene

Blocks:
  • Caveolin
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CAV3 Gene

GenScript: Design optimal peptide antigens:
  • M-caveolin (CAV3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P56539

UniProtKB/Swiss-Prot:

CAV3_HUMAN :
  • Belongs to the caveolin family.
Family:
  • Belongs to the caveolin family.
genes like me logo Genes that share domains with CAV3: view

Function for CAV3 Gene

Molecular function for CAV3 Gene

UniProtKB/Swiss-Prot Function:
May act as a scaffolding protein within caveolar membranes. Interacts directly with G-protein alpha subunits and can functionally regulate their activity. May also regulate voltage-gated potassium channels. Plays a role in the sarcolemma repair mechanism of both skeletal muscle and cardiomyocytes that permits rapid resealing of membranes disrupted by mechanical stress (By similarity). Mediates the recruitment of CAVIN2 and CAVIN3 proteins to the caveolae (PubMed:19262564).
GENATLAS Biochemistry:
caveolin 3,M-caveolin,expressed specifically in cardiac and skeletal-muscle,colocalizing with dystrophin in the sarcolemma,co-purifying with members of the dystrophin complex,overexpressed with presenilin in astrocytes Alzheimer disease,leading to alteration of APP processing

Phenotypes From GWAS Catalog for CAV3 Gene

Gene Ontology (GO) - Molecular Function for CAV3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005246 calcium channel regulator activity IDA 21084288
GO:0005515 protein binding IPI 10988290
GO:0008022 protein C-terminus binding IDA 10988290
GO:0017080 sodium channel regulator activity IMP 17275750
GO:0019870 potassium channel inhibitor activity ISS 22879586
genes like me logo Genes that share ontologies with CAV3: view
genes like me logo Genes that share phenotypes with CAV3: view

Human Phenotype Ontology for CAV3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CAV3 Gene

MGI Knock Outs for CAV3:

Clone Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for CAV3 Gene

Localization for CAV3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CAV3 Gene

Golgi apparatus membrane; Peripheral membrane protein. Cell membrane; Peripheral membrane protein. Membrane, caveola; Peripheral membrane protein. Cell membrane, sarcolemma. Note=Potential hairpin-like structure in the membrane. Membrane protein of caveolae (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CAV3 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 5
golgi apparatus 4
extracellular 2
cytoskeleton 2
mitochondrion 2
nucleus 2
endosome 2
cytosol 2
lysosome 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CAV3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005623 cell IEA --
GO:0005737 colocalizes_with cytoplasm IBA 21873635
GO:0005783 endoplasmic reticulum IDA 22792322
GO:0005794 Golgi apparatus IEA --
genes like me logo Genes that share ontologies with CAV3: view

Pathways & Interactions for CAV3 Gene

genes like me logo Genes that share pathways with CAV3: view

Pathways by source for CAV3 Gene

SIGNOR curated interactions for CAV3 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for CAV3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001778 plasma membrane repair IEA --
GO:0002027 regulation of heart rate IMP 17060380
GO:0006469 negative regulation of protein kinase activity ISS --
GO:0006641 triglyceride metabolic process ISS --
GO:0006897 endocytosis ISS --
genes like me logo Genes that share ontologies with CAV3: view

Drugs & Compounds for CAV3 Gene

(7) Drugs for CAV3 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(7) Additional Compounds for CAV3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CAV3: view

Transcripts for CAV3 Gene

mRNA/cDNA for CAV3 Gene

2 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CAV3 Gene

No ASD Table

Relevant External Links for CAV3 Gene

GeneLoc Exon Structure for
CAV3

Expression for CAV3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CAV3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CAV3 Gene

This gene is overexpressed in Muscle - Skeletal (x30.4), Heart - Left Ventricle (x11.3), and Heart - Atrial Appendage (x5.9).

Protein differential expression in normal tissues from HIPED for CAV3 Gene

This gene is overexpressed in Esophagus (31.4) and Heart (27.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CAV3 Gene



Protein tissue co-expression partners for CAV3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CAV3

SOURCE GeneReport for Unigene cluster for CAV3 Gene:

Hs.98303

mRNA Expression by UniProt/SwissProt for CAV3 Gene:

P56539-CAV3_HUMAN
Tissue specificity: Expressed predominantly in muscle.

Evidence on tissue expression from TISSUES for CAV3 Gene

  • Muscle(4.7)
  • Heart(3.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CAV3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • aorta
  • heart
  • heart valve
  • lung
Limb:
  • foot
  • lower limb
  • shin
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
genes like me logo Genes that share expression patterns with CAV3: view

Orthologs for CAV3 Gene

This gene was present in the common ancestor of animals.

Orthologs for CAV3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CAV3 31 30
  • 99.56 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CAV3 31 30
  • 93.6 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CAV3 31 30
  • 93.6 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Cav3 17 31 30
  • 89.33 (n)
rat
(Rattus norvegicus)
Mammalia Cav3 30
  • 89.11 (n)
oppossum
(Monodelphis domestica)
Mammalia CAV3 31
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves CAV3 31 30
  • 81.43 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CAV3 31
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cav3.1 30
  • 68.65 (n)
African clawed frog
(Xenopus laevis)
Amphibia cav3-prov 30
zebrafish
(Danio rerio)
Actinopterygii cav3 31 30
  • 75.78 (n)
OneToOne
Dr.1435 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12277 30
worm
(Caenorhabditis elegans)
Secernentea cav-1 31
  • 14 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5553 31
  • 27 (a)
OneToMany
Species where no ortholog for CAV3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CAV3 Gene

ENSEMBL:
Gene Tree for CAV3 (if available)
TreeFam:
Gene Tree for CAV3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CAV3: view image

Paralogs for CAV3 Gene

Paralogs for CAV3 Gene

(2) SIMAP similar genes for CAV3 Gene using alignment to 1 proteins:

  • CAV3_HUMAN
genes like me logo Genes that share paralogs with CAV3: view

Variants for CAV3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CAV3 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
637987 Uncertain Significance: Long QT syndrome 9 8,733,965(+) A/G MISSENSE_VARIANT
639987 Uncertain Significance: Long QT syndrome 8,745,575(+) AC/A FRAMESHIFT_VARIANT
642824 Uncertain Significance: Long QT syndrome 8,745,641(+) C/T MISSENSE_VARIANT
650754 Uncertain Significance: Long QT syndrome 8,745,677(+) G/T MISSENSE_VARIANT
651297 Uncertain Significance: Long QT syndrome 8,733,932(+) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for CAV3 Gene

Structural Variations from Database of Genomic Variants (DGV) for CAV3 Gene

Variant ID Type Subtype PubMed ID
nsv1011096 CNV loss 25217958
nsv478098 CNV novel sequence insertion 20440878
nsv589619 CNV loss 21841781

Variation tolerance for CAV3 Gene

Residual Variation Intolerance Score: 70.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.98; 60.00% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CAV3 Gene

Human Gene Mutation Database (HGMD)
CAV3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CAV3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CAV3 Gene

Disorders for CAV3 Gene

MalaCards: The human disease database

(73) MalaCards diseases for CAV3 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search CAV3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CAV3_HUMAN
  • HyperCKmia (HYPCK) [MIM:123320]: Characterized by persistent elevated levels of serum creatine kinase without muscle weakness. {ECO:0000269 PubMed:10746614, ECO:0000269 PubMed:12082049, ECO:0000269 PubMed:14663034, ECO:0000269 PubMed:15099591, ECO:0000269 PubMed:15580566}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Rippling muscle disease 2 (RMD2) [MIM:606072]: A disorder characterized by mechanically triggered contractions of skeletal muscle. Mechanical stimulation leads to electrically silent muscle contractions that spread to neighboring fibers and cause visible ripples to move over the muscle. RMD2 inheritance is autosomal dominant or autosomal recessive. {ECO:0000269 PubMed:11001938, ECO:0000269 PubMed:11431690, ECO:0000269 PubMed:11532985, ECO:0000269 PubMed:11756609, ECO:0000269 PubMed:12557291, ECO:0000269 PubMed:12666119, ECO:0000269 PubMed:12939441, ECO:0000269 PubMed:15564037, ECO:0000269 PubMed:15580566, ECO:0000269 PubMed:15668980, ECO:0000269 PubMed:16458928, ECO:0000269 PubMed:9537420}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cardiomyopathy, familial hypertrophic (CMH) [MIM:192600]: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. {ECO:0000269 PubMed:14672715}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Long QT syndrome 9 (LQT9) [MIM:611818]: A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. {ECO:0000269 PubMed:17060380, ECO:0000269 PubMed:17275750}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Sudden infant death syndrome (SIDS) [MIM:272120]: SIDS is the sudden death of an infant younger than 1 year that remains unexplained after a thorough case investigation, including performance of a complete autopsy, examination of the death scene, and review of clinical history. Pathophysiologic mechanisms for SIDS may include respiratory dysfunction, cardiac dysrhythmias, cardiorespiratory instability, and inborn errors of metabolism, but definitive pathogenic mechanisms precipitating an infant sudden death remain elusive. {ECO:0000269 PubMed:17275750}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Myopathy, distal, Tateyama type (MPDT) [MIM:614321]: A disorder characterized by progressive muscular atrophy and muscle weakness beginning in the hands, the legs, or the feet. Muscle atrophy may be restricted to the small muscles of the hands and feet. {ECO:0000269 PubMed:11805270, ECO:0000269 PubMed:15580566}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CAV3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CAV3: view

No data available for Genatlas for CAV3 Gene

Publications for CAV3 Gene

  1. Caveolin-3 in muscular dystrophy. (PMID: 9536092) McNally EM … Kunkel LM (Human molecular genetics 1998) 2 3 4 23 54
  2. Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. (PMID: 9537420) Minetti C … Zara F (Nature genetics 1998) 2 3 4 23 54
  3. Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3. (PMID: 17275750) Cronk LB … Ackerman MJ (Heart rhythm 2007) 3 4 23 54
  4. Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome. (PMID: 17060380) Vatta M … Towbin JA (Circulation 2006) 3 4 23 54
  5. Molecular and muscle pathology in a series of caveolinopathy patients. (PMID: 15580566) Fulizio L … Angelini C (Human mutation 2005) 3 4 23 54

Products for CAV3 Gene

Sources for CAV3 Gene