SPG7

From Wikipedia, the free encyclopedia

Spastic paraplegia 7, paraplegin (pure and complicated autosomal recessive)

Identifiers

SPG7; CAR; CMAR; FLJ37308; MGC126331; MGC126332; PGN

External IDs

OMIM: 602783 MGI: 2385906 HomoloGene: 31133

Gene ontology
Molecular Function:	• nucleotide binding • molecular_function • metalloendopeptidase activity • ATP binding • zinc ion binding • nucleoside-triphosphatase activity • metal ion binding • unfolded protein binding
Cellular Component:	• cellular_component • proteinaceous extracellular matrix • mitochondrion • membrane • integral to membrane
Biological Process:	• proteolysis • mitochondrion organization and biogenesis • cell adhesion • signal transduction • nervous system development • anterograde axon cargo transport • regulation of cell adhesion • protein catabolic process

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

n/a

Refseq

NM_003119 (mRNA)
NP_003110 (protein)

NM_153176 (mRNA)
NP_694816 (protein)

Location

Chr 16: 88.1 - 88.15 Mb

Chr 8: 125.95 - 125.98 Mb

Pubmed search

[1]

[2]

Spastic paraplegia 7, paraplegin (pure and complicated autosomal recessive), also known as SPG7, is a human gene.^[1]

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.^[1]

[edit] References

^ ^a ^b Entrez Gene: SPG7 spastic paraplegia 7, paraplegin (pure and complicated autosomal recessive).

[edit] 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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.