TERB1
Description
The TERB1 (telomere repeat binding bouquet formation protein 1) is a protein-coding gene located on chromosome 16.
TERB1 plays a critical role in meiosis, specifically in the attachment of telomeres to the inner nuclear membrane. This attachment is essential for homologous pairing and synapsis, processes that are crucial for proper chromosome segregation during cell division. TERB1 acts within the MAJIN-TERB1-TERB2 complex, which facilitates telomere cap exchange by anchoring telomeric DNA to the inner nuclear membrane. This exchange involves the release of the shelterin/telosome complex from telomeric DNA as the complex matures during prophase. TERB1 likely interacts with TERF1 within the complex, promoting initial telomeric DNA attachment. Beyond its role in telomere attachment, TERB1 also contributes to the association of telomeres with the nuclear envelope and the deposition of the SUN-KASH/LINC complex. Furthermore, TERB1 recruits cohesin to telomeres, enhancing their structural rigidity.
TERB1 is also known as CCDC79, SPGF60.
Associated Diseases
- Male infertility with azoospermia or oligozoospermia due to single gene mutation
- Spermatogenic failure 60
