Gene: [03p25/CAV3] caveolin 3 (M-caveolin); muscular dystrophy, limb-girdle, type IC; [LGMD1C VIP-21 ]
|
COM |
By fluorescence in situ hybridization, the CAV3 gene was mapped to Chr 3p25 (Minetti-1998)." |
|
FUN |
Caveolin 3 (or M-caveolin) is the muscle-specific form of the caveolin protein family (see on other human caveolin genes in GEM:00.0/CAV1). Caveolins are the principal protein components of caveolae (50 to 100 nm invaginations found in most cell types), which represent appendages or subcompartments of plasma membranes." |
|
MOP |
The caveolin 3 contains a 20-amino acid scaffolding domain (residues 54 to 73) that is critical for homo-oligomerization and for interaction with several caveolin-associated signaling molecules. A 33-amino acid hydrophobic domain (residues 74 to 106) of caveolin-3, which spans the membrane, is thought to form a hairpin loop within the cell membrane, allowing both the amino- and carboxy-terminal domains to face the cytoplasm (Minetti-1998)." |
|
MUT |
Minetti-1998 described 8 patients from 2 different families with a new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1C), that was associated with a severe deficiency of caveolin-3 in muscle fibers. A mutation was identified in each of the 2 families: a missense mutation in the membrane-spanning region and a microdeletion in the scaffolding domain. They predicted that these mutations may interfere with caveolin-3 oligomerization and disrupt caveolae formation at the muscle cell plasma membrane." |
|
HET |
Two forms of autosomal dominant limb-girdle muscular dystrophy (LGMD) had been identified: LGMD1A (05q31/LGMD1A) and LGMD1B (GEM:01q/LGMD1B)." |
|
REF |
CLO,SEQ "McNally EM &: Hum Mol Genet, 7, N5, 871-877, 1998 COD,LOC,MUT,PAT "Minetti C &: Nature Genet, 18, N4, 365-368, 1998 |
|
KEY |
myo |
|
CLA |
coding, basic |
|
LOC |
03 p25 |
|
MIM |
MIM: 601253 |
|
SYN |
LGMD1C VIP-21 |
