Disease-gene associations mined from literature

Literature associating TONSL and spondyloepimetaphyseal dysplasia

TONSL [ENSP00000386239]

Nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2; 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; Ankyrin repeat domain containing

Synonyms:  TONSL,  Q96HA7,  IKBR,  NFKBIL2,  Q96HA7p ...

Linkouts:  STRING  Pharos  UniProt