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Non imprinted in Prader-Willi/Angelman syndrome 1, also known as NIPA1, is a human gene.[1]
This gene encodes a potential transmembrane protein which functions either as a receptor or transporter molecule, possibly as a magnesium transporter.[2] 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.[3][4]
↑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. PMID17166836.CS1 maint: Multiple names: authors list (link)
↑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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
↑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. PMID14508710.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
Further reading
Bittel DC, Kibiryeva N, Butler MG (2006). "Expression of 4 genes between chromosome 15 breakpoints 1 and 2 and behavioral outcomes in Prader-Willi syndrome". Pediatrics. 118 (4): e1276–83. doi:10.1542/peds.2006-0424. PMID16982806.CS1 maint: Multiple names: authors list (link)
Liu T, Qian WJ, Gritsenko MA; et al. (2006). "Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry". J. Proteome Res. 4 (6): 2070–80. doi:10.1021/pr0502065. PMID16335952.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
Munhoz RP, Kawarai T, Teive HA; et al. (2006). "Clinical and genetic study of a Brazilian family with spastic paraplegia (SPG6 locus)". Mov. Disord. 21 (2): 279–81. doi:10.1002/mds.20775. PMID16267846.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
Chen S, Song C, Guo H; et al. (2006). "Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families". Hum. Mutat. 25 (2): 135–41. doi:10.1002/humu.20126. PMID15643603.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
Chai JH, Locke DP, Greally JM; et al. (2003). "Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking duplicons". Am. J. Hum. Genet. 73 (4): 898–925. PMID14508708.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
Toyoda N, Nagai S, Terashima Y; et al. (2003). "Analysis of mRNA with microsomal fractionation using a SAGE-based DNA microarray system facilitates identification of the genes encoding secretory proteins". Genome Res. 13 (7): 1728–36. doi:10.1101/gr.709603. PMID12805275.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
Fink JK, Jones SM, Sharp GB; et al. (1996). "Hereditary spastic paraplegia linked to chromosome 15q: Analysis of candidate genes". Neurology. 46 (3): 835–6. PMID8618696.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
Fink JK, Wu CT, Jones SM; et al. (1995). "Autosomal dominant familial spastic paraplegia: tight linkage to chromosome 15q". Am. J. Hum. Genet. 56 (1): 188–92. PMID7825577.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
