TGFB1 and cutis laxa: Notably, it has been shown that in Cutis Laxa patients, mutations in both a2V and latent membrane protein 4 stabilizes TGF-β receptors by preventing their endocytosis and lysosomal degradation resulting in enhanced signaling.47, 48 In line with these reports, we find that a2V-KO mice show activation of TGF-β pathway.