Prader-Willi syndrome (PWS) is caused by the loss of expression of imprinted genes in chromosome 15q11-q13 region. Affected individuals exhibit neonatal hypotonia, developmental delay, and childhood-onset obesity. Necdin (NDN), a gene involved in the terminal differentiation of neurons, localizes to this region of the genome and has been implicated as one of the genes responsible for the etiology of PWS. This gene is structurally similar to NDN, is also localized to the PWS chromosomal region, and is paternally imprinted, suggesting a possible role for it in PWS. [provided by RefSeq, Oct 2010].
Boccaccio, Glatt-Deeley, Watrin, Roëckel, Lalande, Muscatelli: "The human MAGEL2 gene and its mouse homologue are paternally expressed and mapped to the Prader-Willi region." in: Human molecular genetics, Vol. 8, Issue 13, pp. 2497-505, (2000) (PubMed).
Lee, Kozlov, Hernandez, Chamberlain, Brannan, Stewart, Wevrick: "Expression and imprinting of MAGEL2 suggest a role in Prader-willi syndrome and the homologous murine imprinting phenotype." in: Human molecular genetics, Vol. 9, Issue 12, pp. 1813-9, (2000) (PubMed).
Aliases for MAGE-Like 2 抗体
MAGE family member L2 (MAGEL2) 抗体 melanoma antigen, family L, 2 (Magel2) 抗体 MAGE family member L2 (Magel2) 抗体 Mage-l2 抗体 MAGEL2 抗体 NDNL1 抗体 nM15 抗体 ns7 抗体