caveolin-3; M-caveolin (CAV3)
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Introduction
Function:
- may act as a scaffolding protein within caveolar membranes
- interacts directly with G-protein alpha subunits & can functionally regulate their activity
- may also regulate voltage-gated K+ channels
- plays a role in the sarcolemma repair mechanism of both skeletal muscle & cardiomyocytes that permits rapid resealing of membranes disrupted by mechanical stress
- interacts with DLG1 & KCNA5; forms a ternary complex (putative)
- interacts with DYSF & TRIM72/MG53
Structure
- homooligomer
- belongs to the caveolin family
Compartment
- muscle specific caveolin; localized to sarcolemma
- Golgi membrane
- cell membrane
- caveola
- potential hairpin-like structure in the membrane
- membrane protein of caveolae
Expression
- expressed predominantly in muscle
Pathology
- defects in CAV3 (or reduced levels) are the cause
- defects in CAV3 are a cause of
- defects in CAV3 can be a cause of
Notes
More general terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/P56539.html
- ↑ CAV3/LGMD1C; Note: Caveolin-3/LGMD-1C page http://www.dmd.nl/cav3_home.html
- ↑ GeneReviews http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/CAV3
- ↑ Wikipedia; Note: Caveolin entry http://en.wikipedia.org/wiki/Caveolin
- ↑ Minetti C et al Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. Nature Genet 18:365-8, 1998 PMID: https://www.ncbi.nlm.nih.gov/pubmed/9537420
Database
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=859
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:859
- OMIM: https://mirror.omim.org/entry/123320
- OMIM: https://mirror.omim.org/entry/192600
- OMIM: https://mirror.omim.org/entry/272120
- OMIM: https://mirror.omim.org/entry/601253
- OMIM: https://mirror.omim.org/entry/606072
- OMIM: https://mirror.omim.org/entry/607801
- OMIM: https://mirror.omim.org/entry/611818
- UniProt: http://www.uniprot.org/uniprot/P56539.html