| MAGEL2 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | MAGEL2 , NDNL1, PWLS, nM15, SHFYNG, MAGE family member L2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 605283; MGI: 1351648; HomoloGene: 8460; GeneCards: MAGEL2; OMA:MAGEL2 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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MAGE family member L2 (MAGEL2) is a protein that in human is encoded by the MAGEL2 gene. This protein is a ubuquitin ligase enhancer which is necessary for endsomal protein recycling. [5] This protein is a part of MUST complex (which consists of MAGEL2-USP7-TRIM27 complex). [6] [7]
The MAGEL2 gene is located on the long(q) arm of chromosome 15 on position 11.2, from base pair 23,643,549 to base pair 23,647,867. [8] This gene is expressed from the paternal chromosome 15. [9]
This protein is known to regulate AMPA receptors in hypothalamus. [10] Also it can regualte secretion of hormones such as: oxytocin, arginine vasopressin, somatostatin, TSH, somatotropin, LH. [11] Loss of that protein showed decreased neuoronal activity in hypothalamus and hippocampus of mice via AMPA receptor trafficking defects, consequently neuronal activity gets disrupted and synaptic excitation/inhibition balance is lost. [12] [13]
MAGEL2 is required for balance of serotonin, dopamine and noradrenaline concentrations, in Magel2-null mice concetrations of that neurotransmitters had been decreased. [14] [15]
As mentioned above MAGEL2 participates in MUST complex, which promotes endosomal F-actin polymerization. [16]
Prader-Willi syndrome (PWS) is a rare genetic disorder that is caused by maternal UPD(15) or deletions/epimutations on paternal chromosome 15. [17] PWS can cause variety of symptoms from hypotoniain infancy to behavioural problems in early childhood. Some symptoms can be found in infants aside from hypotonia, are a poor eye coordination, almond-shaped eyes, thin upper lip, also, due to hypotonia, problems with sucking reflex. Their cries are weak and they have difficulty of waking up. [18]
Deletion of MAGEL2 (and other genes that are located on the same region) contributes to symptoms in PWS. [19]
Schaaf-Yang syndrome (SYS) is a rare genetic disorder that is caused by a mutation in a paternally expressed gene MAGEL2. [20] The signs of this disease are: hypotonia, developmental delay and contractures of joints, also another signs of that disease are unique facial features, small hands, problems with eye and short stature. [21]
As mentioned above, SYS is caused by LoF variants of the paternal copy of MAGEL2. [22]
