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 ...