DISEASES

Disease-gene associations mined from literature

Literature associating TERB2 and ureterolithiasis

TERB2 [ENSP00000340644]

Telomere repeats-binding bouquet formation protein 2; Meiosis-specific telomere-associated protein involved in meiotic telomere attachment to the nucleus inner membrane, a crucial step for homologous pairing and synapsis. Component of the MAJIN-TERB1- TERB2 complex, which promotes telomere cap exchange by mediating attachment of telomeric DNA to the inner nuclear membrane and replacement of the protective cap of telomeric chromosomes: in early meiosis, the MAJIN-TERB1-TERB2 complex associates with telomeric DNA and the shelterin/telosome complex. During prophase, the complex matures and promotes release of the shelterin/telosome complex from telomeric DNA.

Synonyms:  TERB2,  TERB2p,  hTERB2,  H0YKV2,  H0YNH3 ...

Linkouts:  STRING  Pharos  UniProt