Melanoma-associated antigen D1 is a protein that in humans is encoded by the MAGED1gene.[5][6]
Function
This gene is a member of the melanoma antigen gene (MAGE) family. Most of the genes of this family encode tumor specific antigens that are not expressed in normal adult tissues except testis. Although the protein encoded by this gene shares strong homology with members of the MAGE family, it is expressed in almost all normal adult tissues. This gene has been demonstrated to be involved in the p75 neurotrophin receptor mediated programmed cell death pathway. Three transcript variants encoding two different isoforms have been found for this gene.[6]
MAGED was found to be deleted in a group of children with an intellectual disability disorder caused by a Xp11.22 deletion.[7]
Maged1 plays a role in controlling the reward circuitry in the brain of mice that is responsible for addictive behaviors.[8] More recently, it has been shown to play a role in drug addiction through an epigenetic mechanism involving the monoubiquitination of H2A, which represses gene expression via interaction with the deubiquitinase USP7.[9]
Kubu CJ, Goldhawk DG, Barker PA, Verdi JM (2001). "Identification of the translational initiation codon in human MAGED1". Genomics. 70 (1): 150–2. doi:10.1006/geno.2000.6356. PMID11087672.
Zhang CG, Xing GC, Wei HD, Yu YT, He FC (2001). "[A new melanoma antigen-encoding gene subfamily in human chromosome X]". Yi Chuan Xue Bao. 28 (3): 197–203. PMID11280991.
Stone B, Schummer M, Paley PJ, Crawford M, Ford M, Urban N, et al. (2001). "MAGE-F1, a novel ubiquitously expressed member of the MAGE superfamily". Gene. 267 (2): 173–82. doi:10.1016/S0378-1119(01)00406-1. PMID11313144.
Kendall SE, Goldhawk DE, Kubu C, Barker PA, Verdi JM (2003). "Expression analysis of a novel p75(NTR) signaling protein, which regulates cell cycle progression and apoptosis". Mech. Dev. 117 (1–2): 187–200. doi:10.1016/S0925-4773(02)00204-6. PMID12204258. S2CID8919247.