Disease-gene associations mined from literature

Literature associating CAMSAP3 and autosomal dominant Robinow syndrome 3

CAMSAP3 [ENSP00000416797]

Calmodulin regulated spectrin-associated protein family, member 3; 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. Required for the biogenesis and the maintenance of zonula adherens by anchoring the minus-end of microtubules to zonula adherens and by recruiting the kinesin KIFC3 to those junctional sites. Required for orienting the apical-to-basal polarity of microtubules in epithelial cells: acts by tethering non- centrosomal microtubules to the apical cortex, leading to their longitudinal orientation. Plays a key role in early embryos, which lack centrosomes: accumulates at the microtubule bridges that connect pairs of cells and enables the formation of a non-centrosomal microtubule-organizing center that directs intracellular transport in the early embryo (By similarity). Couples non-centrosomal microtubules with actin: interaction with MACF1 at the minus ends of non-centrosomal microtubules, tethers the microtubules to actin filaments, regulating focal adhesion size and cell migration. Plays a key role in the generation of non- centrosomal microtubules by accumulating in the pericentrosomal region and cooperating with KATNA1 to release non-centrosomal microtubules from the centrosome. Through the microtubule cytoskeleton, also regulates the organization of cellular organelles including the Golgi and the early endosomes. Through interaction with AKAP9, involved in translocation of Golgi vesicles in epithelial cells, where microtubules are mainly non-centrosomal; Belongs to the CAMSAP1 family.

Synonyms:  CAMSAP3,  CAMSAP3p,  hCAMSAP3,  CAMSAP3-001,  CAMSAP3-002 ...

Linkouts:  STRING  Pharos  UniProt