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Protein-coding gene in humans
Non-imprinted in Prader-Willi/Angelman syndrome region protein 1 is a protein that in humans is encoded by the NIPA1 gene .[ 5] [ 6] transmembrane protein which functions either as a receptor or transporter molecule, possibly as a magnesium transporter.[ 7] 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]
^ a b c ENSG00000288478 GRCh38: Ensembl release 89: ENSG00000170113, ENSG00000288478 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000047037 – Ensembl , May 2017^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ Rainier S, Chai JH, Tokarz D, Nicholls RD, Fink JK (Sep 2003). "NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6)" . Am J Hum Genet . 73 (4): 967–71. doi :10.1086/378817 . PMC 1180617 PMID 14508710 . ^ "Entrez Gene: NIPA1 non imprinted in Prader-Willi/Angelman syndrome 1" .^ Goytain A, Hines RM, El-Husseini A, Quamme GA (2007). "NIPA1(SPG6), the basis for autosomal dominant form of hereditary spastic paraplegia, encodes a functional Mg2+ transporter" . J. Biol. Chem . 282 (11): 8060–8. doi :10.1074/jbc.M610314200 PMID 17166836 . ^ 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 . PMID 15711826 . S2CID 2236413 . ^ Rainier S, Chai JH, Tokarz D, et al. (2003). "NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6)" . Am. J. Hum. Genet . 73 (4): 967–71. doi :10.1086/378817 . PMC 1180617 PMID 14508710 .
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