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MAGEL2 is a member of the MAGEA gene family. Zusätzlich bieten wir Ihnen MAGE-Like 2 Proteine (2) und viele weitere Produktgruppen zu diesem Protein an.
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Human Polyclonal MAGEL2 Primary Antibody für IHC (p), ELISA - ABIN545685
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 2000
Show all 2 Pubmed References
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
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.
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
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
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.
Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis.
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.
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.
Results suggest that MAGEL2 may not play a role in the pathophysiology of schizophrenia and mood disorders in the Japanese population.
MAGEL2 gene is imprinted, with preferential expression from the paternal allele.
Moreover, -712C>G and -708T>C had significant effects on MAGEL2 transcription and placental efficiency
Imprinting analysis showed that NDN and MAGEL2 are paternally expressed in all tissues of pig where the genes were expressed as in human and mouse.
We detected fundamental deficits in the Magel2-null brain, including global decreases in catecholamine and indolamine pathway biogenic amines, with the catecholamine pathway most affected in the hindbrain and hypothalamus.
Magel2 knockout mice displayed altered social phenotype and a lack of preference for social novelty.
these findings suggest that a loss of Magel2 leads to the disruption of hypothalamic feeding circuits, an effect that appears to be independent of the neurodevelopmental effects of leptin and ghrelin and likely involves a direct neurotrophic effect of Magel2.
Normal leptin responses were found in Magel2-null mice up to 4 weeks of age, but the proportion of leptin-responsive POMC neurons was reduced in 6-week-old Magel2-null mice.
Magel2 inactivation induces a deficit in social recognition and social interaction and a reduced learning ability in adult male mice.
This neural defect, together with increased fat mass, blunted circadian rhythm, and growth hormone response pathway defects that are also linked to loss of MAGEL2, could contribute to the hyperphagia and obesity that are hallmarks of this disorder.
This study demonstrated that Magel2-null mice have abnormalities of hypothalamic endocrine axes that recapitulate phenotypes in Prader-Willi syndrome.
Magel2-deficient mouse with 50% neonatal mortality had an altered onset of suckling activity and subsequent impaired feeding.
Magel2 gene is imprinted, with preferential expression from the paternal allele in mouse and human.
role of the circadian rhythm output gene Magel2 in brain structure and behavior
necdin and MAGE-G1 target both E2F1 and p75 to regulate cell viability during brain development.
Inactivation of the mouse Magel2 gene results in growth abnormalities similar to Prader-Willi syndrome
The robust rhythmicity of Magel2 expression in the SCN and the altered behavioral rhythmicity of null mice reveal Magel2 to be a clock-controlled circadian output gene whose disruption results in some of the phenotypes characteristic of PWS.
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.
MAGE-like protein 2
, necdin-like protein 1
, protein nM15
, MAGE-like 2
, melanoma antigen-like gene 2
, necdin-like 1
, protein nS7
, melanoma antigen, family L, 2