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Caveolin 3. Caveolin-3 is a protein that in humans is encoded by the CAV3 gene. [5] [6] [7] 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.
- CAV3, LGMD1C, LQT9, VIP-21, VIP21, caveolin 3, MPDT, RMD2
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The CAV3 gene provides instructions for making a protein called caveolin-3, which is found in the membrane surrounding muscle cells. Learn about this gene and related health conditions.
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CAV3 -related distal myopathy is one form of distal myopathy, a group of disorders characterized by weakness and loss of function affecting the muscles farthest from the center of the body (distal muscles), such as those of the hands and feet. Explore symptoms, inheritance, genetics of this condition.
Apr 29, 2019 · d Quantification was done on 3 independent experiments (0 min: WT n = 41 cells, P28L n = 25 cells, R26Q n = 21 cells; 15 min: WT n = 22 cells, P28L n = 30 cells, R26Q n = 30 cells). f ...
Jul 7, 2020 · Notably, these “S6 mutations” in Cav3.1 and Cav3.2 are reminiscent to several de novo gain-of-function mutations recently described in other genes encoding Cav channels (Fig. (Fig.3). 3). These other Cav “S6 mutations” also cause severe, mainly neurodevelopmental, clinical phenotypes.
