16 exons; spans 64 kb;

4,441 kb cDNA

yes, also located in 17q11.2, contains exons 1-9

739 amino acids

tissue and stage specifically expressed; expression is noted in embryonic, juvenile and adult tissues. The tissues or organs that express SUZ12 are: bladder, blood, bone, bone marrow, brain, cervix, colon, eye, heart, kidney, liver, lung, lymph node, mammary gland, muscle, ovary, pancreas, peripheral nervous system, placenta, prostate, skin, soft tissue, stomach, tongue, testis, uterus, and the vascular system.

nucleus

SUZ12 is a zinc finger protein and member of the polycomb group (PcG) protein family. They act by forming multiprotein complexes, which are required to maintain the transcriptionally repressive state of homeotic genes throughout development. PcG proteins are required to maintain the repression during later stages of development. They probably act via the methylation of histones, rendering chromatin heritably changed in its expressibility. SUZ12 is a component of the PRC2 complex, which methylates Lys-9 and Lys-27 residues of histone H3. SUZ12 is induced by E2F1 transcription factor.

Polycomb group of proteins

deleted in patients with Neurofibromatosis type 1 and large deletions in the NF1 gene region type-1 (spanning 1.4 Mb)

disrupted by deletion breakpoints of Neurofibromatosis type 1 patients with deletions that span 1.2 Mb (type-2 deletions). JJAZ1/SUZ12 has been identified at the breakpoints of a recurrent chromosomal translocation reported in endometrial stromal sarcoma and the translocation mediated recombination of both leads to a JJAZ1/JAZF1 fusion gene.