DISEASES

Disease-gene associations mined from literature

Literature associating SKA2 and mulibrey nanism

SKA2 [ENSP00000333433]

Spindle and kinetochore associated complex subunit 2; Component of the SKA1 complex, a microtubule-binding subcomplex of the outer kinetochore that is essential for proper chromosome segregation. Required for timely anaphase onset during mitosis, when chromosomes undergo bipolar attachment on spindle microtubules leading to silencing of the spindle checkpoint. The SKA1 complex is a direct component of the kinetochore-microtubule interface and directly associates with microtubules as oligomeric assemblies. The complex facilitates the processive movement of microspheres along a microtubule in a depolymerization-coupled manner. In the complex, it is required for SKA1 localization. Affinity for microtubules is synergistically enhanced in the presence of the ndc-80 complex and may allow the ndc-80 complex to track depolymerizing microtubules.

Synonyms:  SKA2,  SKA2p,  hSKA2,  C0KZE1,  FAM33A ...

Linkouts:  STRING  Pharos  UniProt