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Non-imprinted in Prader-Willi/Angelman syndrome region protein 1 is a protein that in humans is encoded by the NIPA1gene.[5][6]
This gene encodes a potential transmembrane protein which functions either as a receptor or transporter molecule, possibly as a magnesium transporter.[7] This protein is thought to play a role in nervous system development and maintenance. Alternative splice variants have been described, but their biological nature has not been determined. Mutations in this gene have been associated with the human genetic disease autosomal dominant spastic paraplegia 6.[8][9]
^Reed JA, Wilkinson PA, Patel H, et al. (2005). "A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia". Neurogenetics. 6 (2): 79–84. doi:10.1007/s10048-004-0209-9. PMID15711826. S2CID2236413.