This gene is described as a member of the tetraspanin superfamily whose expression is confined to hematopoietic tissues.[3]
Clinical significance
This gene is one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of 11p15.5, an important tumor suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. This gene is located among several imprinted genes; however, this gene, as well as the tumor-suppressing subchromosomal transferable fragment 4 (TSSC4), escapes imprinting. This gene may play a role in malignancies and disease that involve this region as well as hematopoietic cell function.[3]
References
↑Lee MP, Brandenburg S, Landes GM, Adams M, Miller G, Feinberg AP (Apr 1999). "Two novel genes in the center of the 11p15 imprinted domain escape genomic imprinting". Hum Mol Genet. 8 (4): 683–90. doi:10.1093/hmg/8.4.683. PMID10072438.
↑Nicholson RH, Pantano S, Eliason JF, Galy A, Weiler S, Kaplan J, Hughes MR, Ko MS (Sep 2000). "Phemx, a novel mouse gene expressed in hematopoietic cells maps to the imprinted cluster on distal chromosome 7". Genomics. 68 (1): 13–21. doi:10.1006/geno.2000.6277. PMID10950922.
Koi M, Johnson LA, Kalikin LM, Little PF, Nakamura Y, Feinberg AP (1993). "Tumor cell growth arrest caused by subchromosomal transferable DNA fragments from chromosome 11". Science. 260 (5106): 361–4. doi:10.1126/science.8469989. PMID8469989.
Hu RJ, Lee MP, Connors TD, Johnson LA, Burn TC, Su K, Landes GM, Feinberg AP (1998). "A 2.5-Mb transcript map of a tumor-suppressing subchromosomal transferable fragment from 11p15.5, and isolation and sequence analysis of three novel genes". Genomics. 46 (1): 9–17. doi:10.1006/geno.1997.4981. PMID9403053.
Paulsen M, El-Maarri O, Engemann S, Strödicke M, Franck O, Davies K, Reinhardt R, Reik W, Walter J (2000). "Sequence conservation and variability of imprinting in the Beckwith-Wiedemann syndrome gene cluster in human and mouse". Hum. Mol. Genet. 9 (12): 1829–41. doi:10.1093/hmg/9.12.1829. PMID10915772.
Robb L, Tarrant J, Groom J, Ibrahim M, Li R, Borobakas B, Wright MD (2001). "Molecular characterisation of mouse and human TSSC6: evidence that TSSC6 is a genuine member of the tetraspanin superfamily and is expressed specifically in haematopoietic organs". Biochim. Biophys. Acta. 1522 (1): 31–41. doi:10.1016/s0167-4781(01)00306-2. PMID11718897.
