Disease-gene associations mined from literature

Literature associating TOP3B and Li-Fraumeni syndrome 2

TOP3B [ENSP00000381773]

DNA topoisomerase 3-beta-1; Releases the supercoiling and torsional tension of DNA introduced during the DNA replication and transcription by transiently cleaving and rejoining one strand of the DNA duplex. Introduces a single-strand break via transesterification at a target site in duplex DNA. The scissile phosphodiester is attacked by the catalytic tyrosine of the enzyme, resulting in the formation of a DNA-(5'-phosphotyrosyl)- enzyme intermediate and the expulsion of a 3'-OH DNA strand. The free DNA strand than undergoes passage around the unbroken strand thus removing DNA supercoils. Finally, in the religation step, the DNA 3'-OH attacks the covalent intermediate to expel the active-site tyrosine and restore the DNA phosphodiester backbone (By similarity). Possesses negatively supercoiled DNA relaxing activity.

Synonyms:  TOP3B,  TOP3Bp,  hTOP3B,  A0A024R1C2,  C9J9X4 ...

Linkouts:  STRING  Pharos  UniProt