ZBTB16 Antibody – Rabbit Polyclonal

This gene is a member of the Krueppel C2H2-type zinc-finger protein family and encodes a zinc finger transcription factor that contains nine Kruppel-type zinc finger domains at the carboxyl terminus. This protein is located in the nucleus, is involved in cell cycle progression, and interacts with a histone deacetylase. Specific instances of aberrant gene rearrangement at this locus have been associated with acute promyelocytic leukemia (APL). Alternate transcriptional splice variants have been characterized. [provided by RefSeq]

PLZF: 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. Defects in ZBTB16 are the cause of skeletal defects genital hypoplasia and mental retardation (SGYMR). A disorder 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. A chromosomal aberration involving ZBTB16 may be a cause of acute promyelocytic leukemia (APL). Translocation t(11;17)(q32;q21) with RARA. Belongs to the krueppel C2H2-type zinc-finger protein family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Transcription, coactivator/corepressor; C2H2-type zinc finger protein; Oncoprotein; DNA-binding

Chromosomal Location of Human Ortholog: 11q23.1

Cellular Component: nuclear body; PML body; transcriptional repressor complex; plasma membrane; nucleolus; nuclear speck; cytosol; nucleus

Molecular Function: protein C-terminus binding; identical protein binding; protein domain specific binding; protein binding; protein homodimerization activity; DNA binding; metal ion binding; double-stranded DNA binding

Biological Process: negative regulation of myeloid cell differentiation; central nervous system development; transcription, DNA-dependent; apoptosis; positive regulation of apoptosis; positive regulation of transcription, DNA-dependent; protein ubiquitination; negative regulation of transcription from RNA polymerase II promoter; embryonic pattern specification; embryonic hindlimb morphogenesis; positive regulation of ossification; forelimb morphogenesis; anterior/posterior pattern formation; negative regulation of cell proliferation; positive regulation of chondrocyte differentiation; cartilage development; positive regulation of fat cell differentiation; mesonephros development; myeloid cell differentiation; hemopoiesis; positive regulation of NK T cell differentiation; embryonic digit morphogenesis; negative regulation of transcription, DNA-dependent; male germ-line stem cell division

Disease: Skeletal Defects, Genital Hypoplasia, And Mental Retardation