DISEASES

Disease-gene associations mined from literature

Literature associating TRIP13 and pontocerebellar hypoplasia type 2A

TRIP13 [ENSP00000166345]

Human papillomavirus type 16 E1 protein-binding protein; Plays a key role in chromosome recombination and chromosome structure development during meiosis. Required at early steps in meiotic recombination that leads to non-crossovers pathways. Also needed for efficient completion of homologous synapsis by influencing crossover distribution along the chromosomes affecting both crossovers and non-crossovers pathways. Also required for development of higher-order chromosome structures and is needed for synaptonemal-complex formation. In males, required for efficient synapsis of the sex chromosomes and for sex body formation. Promotes early steps of the DNA double- strand breaks (DSBs) repair process upstream of the assembly of RAD51 complexes. Required for depletion of HORMAD1 and HORMAD2 from synapsed chromosomes (By similarity). Plays a role in mitotic spindle assembly checkpoint (SAC) activation; AAA ATPases

Synonyms:  TRIP13,  TRIP13p,  hTRIP13,  Q15645,  TRIP13-001 ...

Linkouts:  STRING  Pharos  UniProt  OMIM