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CAV3 caveolin 3 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001234 Homo sapiens caveolin 3 (CAV3), transcript variant 2, mRNA. GenEZ ORF Cloning In-stock $248.00 $199.00 10
NM_033337 Homo sapiens caveolin 3 (CAV3), transcript variant 1, mRNA. GenEZ ORF Cloning In-stock $248.00 $199.00 10

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Gene Symbol CAV3
Entrez Gene ID 859
Full Name caveolin 3
Synonyms LGMD1C, LQT9, MGC126100, MGC126101, MGC126129, VIP-21, VIP21
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

3

3p25

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. [provided by RefSeq, Jul 2008].
Disorder

MIM: 601253

Muscular dystrophy, limb-girdle, type IC, 607801 (3); Rippling

mRNA Protein Product Sequence Price Select
NM_001234, 356582412 NP_001225, 4502589 caveolin-3 ORF Sequence $99.00
NM_033337, 299115915 NP_203123, 15451860 caveolin-3 ORF Sequence $99.00
KEGG
hsa04144Endocytosis
hsa05100Bacterial invasion of epithelial cells
hsa04510Focal adhesion
Pathway Interaction Database
pdgfrapathwayPDGFR-alpha signaling pathway
WikiPathways
WP185Integrin-mediated cell adhesion
WP306Focal Adhesion
WP706SIDS Susceptibility Pathways
Homo sapiens (human)CAV3NP_001225.1
Pan troglodytes (chimpanzee)CAV3XP_001144093.2
Macaca mulatta (Rhesus monkey)CAV3XP_001097615.1
Canis lupus familiaris (dog)CAV3XP_541786.2
Bos taurus (cattle)CAV3NP_001040023.1
Mus musculus (house mouse)Cav3NP_031643.1
Rattus norvegicus (Norway rat)Cav3NP_062028.1
Gallus gallus (chicken)CAV3NP_989701.1
Danio rerio (zebrafish)cav3NP_991301.1
GeneCards CAV3
UniProt P56539
MIM 601253
Ensembl ENSG00000182533
HGNC 1529
HPRD 03154

GeneRIFs: Gene References Into Functions What's a GeneRIF?

General protein information

Preferred Names
caveolin-3
Names
caveolin-3
M-caveolin

Interactant



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