DISEASES

Disease-gene associations mined from literature

Literature on ZBTB48

ZBTB48 [ENSP00000366902]

Telomere zinc finger-associated protein; Telomere-binding protein that acts as a regulator of telomere length . Directly binds the telomeric double-stranded 5'-TTAGGG-3' repeat . 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 . 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 . Regulates expression the J and/or S elements in MHC II promoter . Acts as a negative regulator of cell proliferation by specifically activating expression of ARF, a tumor suppressor isoform of CDKN2A . ECO:0000269|PubMed:28082411, ECO:0000269|PubMed:28500257,; Belongs to the krueppel C2H2-type zinc-finger protein family.

Synonyms:  ZBTB48,  ZBTB48p,  hZBTB48,  K7EM76,  K7ENV2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM