Covered on Genetics Home Reference: acute promyelocytic leukemiaFrom NCBI Gene: Skeletal defects, genital hypoplasia, and mental retardationFrom UniProt: 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. [MIM:612447] A chromosomal aberration involving ZBTB16 may be a cause of acute promyelocytic leukemia (APL). Translocation t(11;17)(q32;q21) with RARA.

     From NCBI Gene: 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, Jul 2008] From UniProt: 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.

The following transcription factors affect gene expression:

• STAT5B
• Sp1
• GATA-1
• AML1a
• GATA-2
• p300

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.

Induction:

By retinoic acid.

Molecular Function:

• Dna Binding
• Identical Protein Binding
• Metal Ion Binding
• Protein Homodimerization Activity
• Rna Polymerase Ii Distal Enhancer Sequence-Specific Dna Binding
• Transcriptional Repressor Activity, Rna Polymerase Ii Distal Enhancer Sequence-Specific Binding

Biological Processes:

• Anterior/Posterior Pattern Specification
• Apoptotic Process
• Cartilage Development
• Central Nervous System Development
• Embryonic Digit Morphogenesis
• Embryonic Hindlimb Morphogenesis
• Embryonic Pattern Specification
• Forelimb Morphogenesis
• Hemopoiesis
• Male Germ-Line Stem Cell Asymmetric Division
• Mesonephros Development
• Myeloid Cell Differentiation
• Negative Regulation Of Cell Proliferation
• Negative Regulation Of Myeloid Cell Differentiation
• Negative Regulation Of Transcription, Dna-Templated
• Negative Regulation Of Transcription From Rna Polymerase Ii Promoter
• Positive Regulation Of Apoptotic Process
• Positive Regulation Of Cartilage Development
• Positive Regulation Of Chondrocyte Differentiation
• Positive Regulation Of Fat Cell Differentiation
• Positive Regulation Of Nk T Cell Differentiation
• Positive Regulation Of Ossification
• Positive Regulation Of Transcription, Dna-Templated
• Protein Localization To Nucleus
• Protein Ubiquitination
• Transcription, Dna-Templated