Disease-gene associations mined from literature

Literature associating CAMSAP2 and megacystis-microcolon-intestinal hypoperistalsis syndrome

CAMSAP2 [ENSP00000236925]

Calmodulin regulated spectrin-associated protein family, member 2; Key microtubule-organizing protein that specifically binds the minus-end of non-centrosomal microtubules and regulates their dynamics and organization. Specifically recognizes growing microtubule minus-ends and autonomously decorates and stabilizes microtubule lattice formed by microtubule minus-end polymerization. Acts on free microtubule minus-ends that are not capped by microtubule-nucleating proteins or other factors and protects microtubule minus-ends from depolymerization. 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; Belongs to the CAMSAP1 family.

Synonyms:  CAMSAP2,  CAMSAP2p,  hCAMSAP2,  B3KX64,  Q08AD1 ...

Linkouts:  STRING  Pharos  UniProt