| Description | 739 amino acids |
| Expression | 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. |
| Localisation | nucleus |
| Function | 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. |
| Homology | Polycomb group of proteins |
| JAZF1/JJAZ1 gene fusion in endometrial stromal sarcomas: molecular analysis by reverse transcriptase-polymerase chain reaction optimized for paraffin-embedded tissue. |
| Hrzenjak A, Moinfar F, Tavassoli FA, Strohmeier B, Kremser ML, Zatloukal K, Denk H |
| The Journal of molecular diagnostics : JMD. 2005 ; 7 (3) : 388-395. |
| PMID 16049311 |
| |
| Molecular detection of JAZF1-JJAZ1 gene fusion in endometrial stromal neoplasms with classic and variant histology: evidence for genetic heterogeneity. |
| Huang HY, Ladanyi M, Soslow RA |
| The American journal of surgical pathology. 2004 ; 28 (2) : 224-232. |
| PMID 15043312 |
| |
| High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene. |
| Kehrer-Sawatzki H, Kluwe L, Sandig C, Kohn M, Wimmer K, Krammer U, Peyrl A, Jenne DE, Hansmann I, Mautner VF |
| American journal of human genetics. 2004 ; 75 (3) : 410-423. |
| PMID 15257518 |
| |
| Frequent fusion of the JAZF1 and JJAZ1 genes in endometrial stromal tumors. |
| Koontz JI, Soreng AL, Nucci M, Kuo FC, Pauwels P, van Den Berghe H, Cin PD, Fletcher JA, Sklar J |
| Proceedings of the National Academy of Sciences of the United States of America. 2001 ; 98 (11) : 6348-6353. |
| PMID 11371647 |
| |
| Cytogenetic and molecular genetic analyses of endometrial stromal sarcoma: nonrandom involvement of chromosome arms 6p and 7p and confirmation of JAZF1/JJAZ1 gene fusion in t(7;17). |
| Micci F, Walter CU, Teixeira MR, Panagopoulos I, Bjerkehagen B, Saeter G, Heim S |
| Cancer genetics and cytogenetics. 2003 ; 144 (2) : 119-124. |
| PMID 12850374 |
| |
| Mitotic recombination mediated by the JJAZF1 (KIAA0160) gene causing somatic mosaicism and a new type of constitutional NF1 microdeletion in two children of a mosaic female with only few manifestations. |
| Petek E, Jenne DE, Smolle J, Binder B, Lasinger W, Windpassinger C, Wagner K, Kroisel PM, Kehrer-Sawatzki H |
| Journal of medical genetics. 2003 ; 40 (7) : 520-525. |
| PMID 12843325 |
| |
