DISEASES

Disease-gene associations mined from literature

Literature associating MAPRE3 and Perry syndrome

MAPRE3 [ENSP00000233121]

Microtubule-associated protein RP/EB family member 3; Plus-end tracking protein (+TIP) that binds to the plus-end of microtubules and regulates the dynamics of the microtubule cytoskeleton. Promotes microtubule growth. May be involved in spindle function by stabilizing microtubules and anchoring them at centrosomes. Also acts as a regulator of minus-end microtubule organization: interacts with the complex formed by AKAP9 and PDE4DIP, leading to recruit CAMSAP2 to the Golgi apparatus, thereby tethering non- centrosomal minus-end microtubules to the Golgi, an important step for polarized cell movement . Promotes elongation of CAMSAP2-decorated microtubule stretches on the minus-end of microtubules . May play a role in cell migration (By similarity).

Synonyms:  MAPRE3,  MAPRE3p,  hMAPRE3,  C9JB30,  Q9UPY8 ...

Linkouts:  STRING  Pharos  UniProt  OMIM