Literature associating CAMSAP2 and megacystis-microcolon-intestinal hypoperistalsis syndrome
CAMSAP2 [ENSP00000236925]
Calmodulin-regulated spectrin-associated protein 2; Key microtubule-organizing protein that specifically binds the minus-end of non-centrosomal microtubules and regulates their dynamics and organization (PubMed:23169647, PubMed:24486153, PubMed:24706919). Specifically recognizes growing microtubule minus- ends and autonomously decorates and stabilizes microtubule lattice formed by microtubule minus-end polymerization (PubMed:24486153, PubMed:24706919). Acts on free microtubule minus-ends that are not capped by microtubule-nucleating proteins or other factors and protects microtubule minus-ends from depolymerization (PubMed:24486153, PubMed:24706919). In addition, it also reduces the velocity of microtubule polymerization . Through the microtubule cytoskeleton, also regulates the organization of cellular organelles including the Golgi and the early endosomes . Essential for the tethering, but not for nucleation of non-centrosomal microtubules at the Golgi: together with Golgi- associated proteins AKAP9 and PDE4DIP, required to tether non- centrosomal minus-end microtubules to the Golgi, an important step for polarized cell movement . Also acts as a regulator of neuronal polarity and development: localizes to non-centrosomal microtubule minus-ends in neurons and stabilizes non-centrosomal microtubules, which is required for neuronal polarity, axon specification and dendritic branch formation . Through the microtubule cytoskeleton, regulates the autophagosome transport . ECO:0000269|PubMed:24486153, ECO:0000269|PubMed:24706919, ECO:0000269|PubMed:24908486, ECO:0000269|PubMed:27666745,; Belongs to the CAMSAP1 family.
Synonyms: CAMSAP2, CAMSAP2p, hCAMSAP2, H0Y4Z1, H0YE13 ...