Aliases for ZBTB48 Gene
External Ids for ZBTB48 Gene
Previous HGNC Symbols for ZBTB48 Gene
Previous GeneCards Identifiers for ZBTB48 Gene
GeneCards Summary for ZBTB48 Gene
ZBTB48 (Zinc Finger And BTB Domain Containing 48) is a Protein Coding gene. Diseases associated with ZBTB48 include Neuroblastoma. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and DNA-binding transcription factor activity. An important paralog of this gene is ZNF84.
UniProtKB/Swiss-Prot Summary for ZBTB48 Gene
Telomere-binding protein that acts as a regulator of telomere length (PubMed:28500257, PubMed:28082411). Directly binds the telomeric double-stranded 5'-TTAGGG-3' repeat (PubMed:28500257, PubMed:28082411). Preferentially binds to telomeres that have a low concentration of shelterin complex and acts as a regulator of telomere length by initiating telomere trimming, a process that prevents the accumulation of aberrantly long telomeres (PubMed:28082411). Also acts as a transcription regulator that binds to promoter regions (PubMed:7969177, PubMed:24382891, PubMed:28500257). Regulates expression of a small subset of genes, including MTFP1 (PubMed:28500257). Regulates expression the J and/or S elements in MHC II promoter (PubMed:7969177). Acts as a negative regulator of cell proliferation by specifically activating expression of ARF, a tumor suppressor isoform of CDKN2A (PubMed:24382891).