Disease:A chromosomal aberration involving ZBTB16 may be a cause of acute promyelocytic leukemia (APL). Translocation t(11;17)(q32;q21) with RARA.,Disease:Defects in ZBTB16 are the cause of skeletal defects genital hypoplasia and mental retardation [MIM:612447]. The disorder is characterized by mental retardation, 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.,Function:Probable transcription factor. 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.,induction:By retinoic acid.,pathway:Protein modification; protein ubiquitination.,similarity:Belongs to the krueppel C2H2-type zinc-finger protein family.,similarity:Contains 1 BTB (POZ) domain.,similarity:Contains 9 C2H2-type zinc fingers.,subunit:Binds EPN1. Interacts with ZBTB32 and CUL3.,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.,
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