Caveolin 3

From Anvita Health Wiki

Contents 1 Introduction 2 Structure 3 Compartment 4 Expression 5 Pathology 6 Notes 7 More General Terms 8 Internet Database 9 References

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

• limb-girdle muscular dystrophy type 1C
• long QT syndrome type 9

• defects in CAV3 are a cause of

• hyperCKemia
• rippling muscle disease
• familial hypertrophic cardiomyopathy

• defects in CAV3 can be a cause of

• sudden infant death syndrome

Notes

• uncertain whether Met-1 or Met-2 is the initiator

More General Terms

• caveolin

Internet Database

Entrez gene: 859
Kegg: [1]
OMIM: 123320
OMIM: 192600
OMIM: 272120
OMIM: 601253
OMIM: 606072
OMIM: 607801
OMIM: 611818
Prosite: [2]
UniProt: [3]

References

1. UniProt [4]
2. CAV3/LGMD1C; Note: Caveolin-3/LGMD-1C page [5]
3. GeneReviews [6]
4. Wikipedia; Note: Caveolin entry [7]
5. Minetti C et al Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. Nature Genet 18:365-8, 1998 PMID: [8]

caveolin-3; M-caveolin (CAV3)