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FLASH GENE

Symbol

MAGEL2

contributors: mct - updated : 20-11-2024

HGNC name	MAGE-like 2
HGNC id	6814

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

PWS , PWLAD , AMCN5

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   in the hippocampus of patients with incipient Alzheimer disease constitutional       loss of function 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

Susceptibility

Variant & Polymorphism

Candidate gene	regulation of normal circadian rhythm
Marker
Therapy target

ANIMAL & CELL MODELS

	Magel2-null mice exhibit neonatal growth retardation, excessive weight gain after weaning, and increased adiposity with altered metabolism in adulthood as seen in PWS patients
	mice lacking Magel2 display increased weight gain with excess adiposity and other defects suggestive of hypothalamic deficiency
	paternally Magel2-null mice have reduced embryonic viability but otherwise normal embryonic growth in survivors, followed by post-natal growth retardation and excessive weight gain, recapitulating aspects of the PWS phenotype