ZBTB16
Function
Acts as a transcriptional repressor (PubMed:10688654, PubMed:24359566). Transcriptional repression may be mediated through recruitment of histone deacetylases to target promoters (PubMed:10688654). May play a role in myeloid maturation and in the development and/or maintenance of other differentiated tissues. Probable substrate-recognition component of an E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:14528312).
Involvement in disease
Skeletal defects, genital hypoplasia, and impaired intellectual development
SGYMR
A disorder characterized by intellectual disability, craniofacial dysmorphism, microcephaly and short stature. Additional features include absence of the thumbs, hypoplasia of the radii and ulnae, additional vertebrae and ribs, retarded bone age and genital hypoplasia.
None
The disease is caused by variants affecting the gene represented in this entry.
A chromosomal aberration involving ZBTB16 may be a cause of acute promyelocytic leukemia (APL). Translocation t(11;17)(q32;q21) with RARA.
Pathway
Protein modification; protein ubiquitination.
Sequence Similarities
Belongs to the krueppel C2H2-type zinc-finger protein family.
Tissue Specificity
Within the hematopoietic system, PLZF is expressed in bone marrow, early myeloid cell lines and peripheral blood mononuclear cells. Also expressed in the ovary, and at lower levels, in the kidney and lung.
Cellular localization
- Nucleus
- Nucleus
- Nuclear body
Alternative names
PLZF, ZNF145, ZBTB16, Zinc finger and BTB domain-containing protein 16, Promyelocytic leukemia zinc finger protein, Zinc finger protein 145, Zinc finger protein PLZF