SPG7

Spastic paraplegia 7, paraplegin (pure and complicated autosomal recessive)
Identifiers
Symbols	SPG7 ; CAR; CMAR; FLJ37308; MGC126331; MGC126332; PGN
External IDs	Template:OMIM5 Template:MGI HomoloGene: 31133
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
File:PBB GE SPG7 202104 s at tn.png
File:PBB GE SPG7 214494 s at tn.png
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Spastic paraplegia 7, paraplegin (pure and complicated autosomal recessive), also known as SPG7, is a human gene.

This gene encodes a nuclear-encoded mitochondrial metalloprotease protein that is a member of the AAA (ATPases associated with a variety of cellular activities) protein family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organelle biogenesis, protein folding, and proteolysis. Two transcript variants encoding distinct isoforms have been identified for this gene. Mutations associated with this gene cause autosomal recessive spastic paraplegia 7.

Further reading

• Pullman WE, Bodmer WF (1992). "Cloning and characterization of a gene that regulates cell adhesion". Nature. 356 (6369): 529–32. doi:10.1038/356529a0. PMID 1560826.
• Koyama K, Emi M, Nakamura Y (1993). "The cell adhesion regulator (CAR) gene, TaqI and insertion/deletion polymorphisms, and regional assignment to the peritelomeric region of 16q by linkage analysis". Genomics. 16 (1): 264–5. doi:10.1006/geno.1993.1173. PMID 8098008.CS1 maint: Multiple names: authors list (link)
• Pullman WE, Bodmer WF (1993). "Cloning and characterization of a gene that regulates cell adhesion". Nature. 361 (6412): 564. doi:10.1038/361564c0. PMID 8429914.
• Durbin H, Novelli MR, Bodmer WF (1998). "Genomic and cDNA sequence analysis of the cell matrix adhesion regulator gene". Proc. Natl. Acad. Sci. U.S.A. 94 (26): 14578–83. PMID 9405655.CS1 maint: Multiple names: authors list (link)
• De Michele G, De Fusco M, Cavalcanti F; et al. (1998). "A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3". Am. J. Hum. Genet. 63 (1): 135–9. PMID 9634528.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Casari G, De Fusco M, Ciarmatori S; et al. (1998). "Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease". Cell. 93 (6): 973–83. PMID 9635427.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Settasatian C, Whitmore SA, Crawford J; et al. (1999). "Genomic structure and expression analysis of the spastic paraplegia gene, SPG7". Hum. Genet. 105 (1–2): 139–44. PMID 10480368.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Kremmidiotis G, Gardner AE, Settasatian C; et al. (2001). "Molecular and functional analyses of the human and mouse genes encoding AFG3L1, a mitochondrial metalloprotease homologous to the human spastic paraplegia protein". Genomics. 76 (1–3): 58–65. doi:10.1006/geno.2001.6560. PMID 11549317.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. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• McDermott CJ, Roberts D, Tomkins J; et al. (2003). "Spastin and paraplegin gene analysis in selected cases of motor neurone disease (MND)". Amyotroph. Lateral Scler. Other Motor Neuron Disord. 4 (2): 96–9. PMID 14506940.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Rual JF, Venkatesan K, Hao T; et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Pirozzi M, Quattrini A, Andolfi G; et al. (2006). "Intramuscular viral delivery of paraplegin rescues peripheral axonopathy in a model of hereditary spastic paraplegia". J. Clin. Invest. 116 (1): 202–8. doi:10.1172/JCI26210. PMID 16357941.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Elleuch N, Depienne C, Benomar A; et al. (2006). "Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia". Neurology. 66 (5): 654–9. doi:10.1212/01.wnl.0000201185.91110.15. PMID 16534102.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Warnecke T, Duning T, Schwan A; et al. (2007). "A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation". Neurology. 69 (4): 368–75. doi:10.1212/01.wnl.0000266667.91074.fe. PMID 17646629.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)