ZBTB1
Description
The ZBTB1 (zinc finger and BTB domain containing 1) is a protein-coding gene located on chromosome 14.
ZBTB1, encoded by the ZBTB1 gene, is a protein crucial for lymphocyte development in mice. Mice lacking ZBTB1 exhibit a complete absence of T cells and reduced numbers of B cells and natural killer cells.
ZBTB1 acts as a transcriptional repressor, inhibiting cAMP-responsive element (CRE)-mediated activation. It also plays a role in translesion DNA synthesis, being essential for UV-induced RAD18 loading, PCNA monoubiquitination, POLH recruitment to replication factories, and efficient translesion DNA synthesis. ZBTB1 is crucial for the transcriptional regulation of T lymphocyte development. This information is based on experimental evidence from UniProtKB and PubMed publications 20797634, 21706167, and 24657165.
ZBTB1 is also known as ZNF909.
Associated Diseases
- common variable immunodeficiency
- severe combined immunodeficiency due to IKK2 deficiency
- Okt4 epitope deficiency
- immunodeficiency 79
- isolated agammaglobulinemia
- combined immunodeficiency with skin granulomas
- immunodeficiency 19
- short-limb skeletal dysplasia with severe combined immunodeficiency
