DISEASES

Disease-gene associations mined from literature

Literature associating CENPJ and primary autosomal recessive microcephaly

CENPJ [ENSP00000371308]

Centrosomal P4.1-associated protein; Plays an important role in cell division and centrosome function by participating in centriole duplication. Inhibits microtubule nucleation from the centrosome. Involved in the regulation of slow processive growth of centriolar microtubules. Acts as microtubule plus-end tracking protein that stabilizes centriolar microtubules and inhibits microtubule polymerization and extension from the distal ends of centrioles. Required for centriole elongation and for STIL- mediated centriole amplification. May be involved in the control of centriolar-microtubule growth by acting as a regulator of tubulin release; Belongs to the TCP10 family.

Synonyms:  CENPJ,  B3KVU9,  DKFZP667E025,  Q5JPD5,  Q9HC77 ...

Linkouts:  STRING  Pharos  UniProt  OMIM