DISEASES

Disease-gene associations mined from literature

Literature associating TONSL and spondyloepimetaphyseal dysplasia

TONSL [ENSP00000386239]

Tonsoku-like protein; Component of the MMS22L-TONSL complex, a complex that stimulates the recombination-dependent repair of stalled or collapsed replication forks. The MMS22L-TONSL complex is required to maintain genome integrity during DNA replication by promoting homologous recombination-mediated repair of replication fork-associated double- strand breaks. It may act by mediating the assembly of RAD51 filaments on ssDNA. Within the complex, may act as a scaffold. ECO:0000269|PubMed:21055985, ECO:0000269|PubMed:30773278,; Belongs to the Tonsoku family.

Synonyms:  TONSL,  A0A087X1F6,  Q96HA7,  Q96HA7p,  hQ96HA7 ...

Linkouts:  STRING  Pharos  UniProt