| Modification Notes |
Peg10 (Paternally expressed gene 10), also known as EDR, KIAA1051, MAR2, MART2, MEF3L1 or RGAG3, is a 708 amino acid protein that localizes to both the nucleus and they cytoplasm and contains one CCHC-type zinc finger. Expressed in placenta, brain, kidney, liver, thymus, lung, ovary and spleen, Peg10 plays a role in cell growth promotion and apoptosis prevention and is, therefore, thought to be a potent factor in tumor formation and metastasis. Peg10 exists as two distinct isoforms, designated RF1 and RF1/RF2, which have distinctive active sites, but are both associated with cell growth and differentiation control. The gene encoding Peg10 maps to human chromosome 7, which houses over 1,000 genes and comprises nearly 5% of the human genome. Defects in some of the genes localized to chromosome 7 have been linked to Osteogenesis imperfecta, Williams-Beuren syndrome, Pendred syndrome, Lissencephaly, Citrullinemia and Shwachman-Diamond syndrome. |