SPG7

Spastic paraplegia 7, paraplegin (pure and complicated autosomal recessive), also known as SPG7, is a human gene.cite web | title = Entrez Gene: SPG7 spastic paraplegia 7, paraplegin (pure and complicated autosomal recessive)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6687| accessdate = ]

PBB_Summary
section_title =
summary_text = 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.cite web | title = Entrez Gene: SPG7 spastic paraplegia 7, paraplegin (pure and complicated autosomal recessive)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6687| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Pullman WE, Bodmer WF |title=Cloning and characterization of a gene that regulates cell adhesion. |journal=Nature |volume=356 |issue= 6369 |pages= 529–32 |year= 1992 |pmid= 1560826 |doi= 10.1038/356529a0
*cite journal | author=Koyama K, Emi M, Nakamura Y |title=The cell adhesion regulator (CAR) gene, TaqI and insertion/deletion polymorphisms, and regional assignment to the peritelomeric region of 16q by linkage analysis. |journal=Genomics |volume=16 |issue= 1 |pages= 264–5 |year= 1993 |pmid= 8098008 |doi= 10.1006/geno.1993.1173
*cite journal | author=Pullman WE, Bodmer WF |title=Cloning and characterization of a gene that regulates cell adhesion. |journal=Nature |volume=361 |issue= 6412 |pages= 564 |year= 1993 |pmid= 8429914 |doi= 10.1038/361564c0
*cite journal | author=Durbin H, Novelli MR, Bodmer WF |title=Genomic and cDNA sequence analysis of the cell matrix adhesion regulator gene. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=94 |issue= 26 |pages= 14578–83 |year= 1998 |pmid= 9405655 |doi=
*cite journal | author=De Michele G, De Fusco M, Cavalcanti F, "et al." |title=A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3. |journal=Am. J. Hum. Genet. |volume=63 |issue= 1 |pages= 135–9 |year= 1998 |pmid= 9634528 |doi=
*cite journal | author=Casari G, De Fusco M, Ciarmatori S, "et al." |title=Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. |journal=Cell |volume=93 |issue= 6 |pages= 973–83 |year= 1998 |pmid= 9635427 |doi=
*cite journal | author=Settasatian C, Whitmore SA, Crawford J, "et al." |title=Genomic structure and expression analysis of the spastic paraplegia gene, SPG7. |journal=Hum. Genet. |volume=105 |issue= 1-2 |pages= 139–44 |year= 1999 |pmid= 10480368 |doi=
*cite journal | author=Kremmidiotis G, Gardner AE, Settasatian C, "et al." |title=Molecular and functional analyses of the human and mouse genes encoding AFG3L1, a mitochondrial metalloprotease homologous to the human spastic paraplegia protein. |journal=Genomics |volume=76 |issue= 1-3 |pages= 58–65 |year= 2001 |pmid= 11549317 |doi= 10.1006/geno.2001.6560
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=McDermott CJ, Roberts D, Tomkins J, "et al." |title=Spastin and paraplegin gene analysis in selected cases of motor neurone disease (MND). |journal=Amyotroph. Lateral Scler. Other Motor Neuron Disord. |volume=4 |issue= 2 |pages= 96–9 |year= 2003 |pmid= 14506940 |doi=
*cite journal | author=Ota T, Suzuki Y, Nishikawa T, "et al." |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Rual JF, Venkatesan K, Hao T, "et al." |title=Towards a proteome-scale map of the human protein-protein interaction network. |journal=Nature |volume=437 |issue= 7062 |pages= 1173–8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209
*cite journal | author=Pirozzi M, Quattrini A, Andolfi G, "et al." |title=Intramuscular viral delivery of paraplegin rescues peripheral axonopathy in a model of hereditary spastic paraplegia. |journal=J. Clin. Invest. |volume=116 |issue= 1 |pages= 202–8 |year= 2006 |pmid= 16357941 |doi= 10.1172/JCI26210
*cite journal | author=Elleuch N, Depienne C, Benomar A, "et al." |title=Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia. |journal=Neurology |volume=66 |issue= 5 |pages= 654–9 |year= 2006 |pmid= 16534102 |doi= 10.1212/01.wnl.0000201185.91110.15
*cite journal | author=Warnecke T, Duning T, Schwan A, "et al." |title=A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation. |journal=Neurology |volume=69 |issue= 4 |pages= 368–75 |year= 2007 |pmid= 17646629 |doi= 10.1212/01.wnl.0000266667.91074.fe

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