MAGEL2 Antibody

1. the single-nucleotide polymorphism rs850807, which is putatively functional and linked with MAGEL2 and NDN Genetic variation in rs850807 was strongly and exclusively associated with the ideas of reference subscale of the schizophrenia spectrum, which is best typified as paranoia PMID: 29343559
2. Genes encoding MAGEL2 partners, either in the retrograde transport or in the ubiquitination-deubiquitination complexes, are promising candidates as Opitz trigonocephaly C syndrome -causing genes. PMID: 28281571
3. We report on first two unrelated patients of Polish descent with Schaaf-Yang syndrome caused by de-novo intragenic mutations in the MAGEL2 gene, identified by next-generation sequencing PMID: 29389715
4. This study provides strong evidence for the pathogenicity of truncating mutations of the paternal allele of MAGEL2, refines the associated clinical phenotypes, and highlights implications for genetic counseling for affected families PMID: 27195816
5. A similar progressive loss of leptin sensitivity caused by loss of MAGEL2 in children with Prader-Willi syndrome could explain the delayed onset of increased appetite and weight gain in this complex disorder. PMID: 25926624
6. Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis. PMID: 26365340
7. MAGEL2 is a new gene causing complex autism spectrum disorder and MAGEL2 loss of function can contribute to several aspects of the Prader-Willi syndrome phenotype. PMID: 24076603
8. These findings provide a cellular and molecular function for MAGE-L2-TRIM27 in retrograde transport, including an unappreciated role of K63-linked ubiquitination and identification of an activating signal of the WASH regulatory complex. PMID: 23452853
9. Results suggest that MAGEL2 may not play a role in the pathophysiology of schizophrenia and mood disorders in the Japanese population. PMID: 20467835
10. MAGEL2 gene is imprinted, with preferential expression from the paternal allele. PMID: 10556298

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HGNC: 6814

OMIM: 605283

KEGG: hsa:54551

STRING: 9606.ENSP00000433433

UniGene: Hs.141496