DISEASES

Disease-gene associations mined from literature

Literature associating NUF2 and dilated cardiomyopathy 1A

NUF2 [ENSP00000271452]

Kinetochore protein Nuf2; Acts as a component of the essential kinetochore-associated NDC80 complex, which is required for chromosome segregation and spindle checkpoint activity (PubMed:12438418, PubMed:14654001, PubMed:15062103, PubMed:15235793, PubMed:15239953, PubMed:15548592, PubMed:17535814). Required for kinetochore integrity and the organization of stable microtubule binding sites in the outer plate of the kinetochore . The NDC80 complex synergistically enhances the affinity of the SKA1 complex for microtubules and may allow the NDC80 complex to track depolymerizing microtubules . ECO:0000269|PubMed:15062103, ECO:0000269|PubMed:15235793, ECO:0000269|PubMed:15239953, ECO:0000269|PubMed:15548592,

Synonyms:  NUF2,  NUF2p,  hNUF2,  B1AQT3,  B1AQT4 ...

Linkouts:  STRING  Pharos  UniProt  OMIM