SPG7 matrix AAA peptidase subunit, paraplegin
Ultimo aggiornamento 28 Giugno 2022
Rispetta le linee guida editoriali
- ScaricaScarica
- Condividi
- Language
- Discussione
- Versione audio
- Aggiungi alle fonti preferite su Google
L SPG7 gene provides instructions for producing a protein called paraplegin, which is a member of the AAA protein family. This protein family plays a role in many cellular activities, including regulation of cell components and proteins. Located within the inner membrane of the energy-producing centers of cells (mitochondria), paraplegin is one of the proteins that form a complex called the m-AAA protease. The m-AAA protease is responsible for assembling ribosomes (cellular structures that process the cell's genetic instructions to create proteins) and removing nonfunctional proteins in the mitochondria.
Normal function
L SPG7 gene provides instructions for producing a protein called paraplegin, which is a member of the AAA protein family. This protein family plays a role in many cellular activities, including regulation of cell components and proteins. Located within the inner membrane of the energy-producing centers of cells (mitochondria), paraplegin is one of the proteins that form a complex called the m-AAA protease. The m-AAA protease is responsible for assembling ribosomes (cellular structures that process the cell's genetic instructions to create proteins) and removing nonfunctional proteins in the mitochondria.
Conditions referring to this gene or chromosome
Altri nomi
CAR
cell adhesion regulator
CMAR
FLJ37308
MGC126331
MGC126332
paraplegin, isoform 1
PGN
spastic paraplegia 7
spastic paraplegia 7 (pure and complicated autosomal recessive)
SPG5C
SPG7_HUMAN
Related patient information and medicines
Patient information leaflet
Trattamento del diabete di tipo 2
A rare but serious side-effect of SGLT-2 inhibitors is a conditi... DPP-4 (dipeptidyl peptidase-4) inhibitors - also known as incretin enhancers This group includes alogliptin , linagliptin , saxagliptin , sitagliptin and vildagliptin. Dipeptidyl peptidase 4 (DPP-4) è a chemical (an enzyme) which breaks down hormones called incretins. Incretins:.
Patient information leaflet
Aneurisma dell'aorta addominale
The aorta is the main blood vessel in the abdomen, running down from your heart. It is normally about the diameter of a garden hose. In older people, particularly those who smoke, part of it can enlarge and balloon up. This is called an abdominal aortic aneurysm (often abbreviated to AAA, pronounced 'triple-A'). This doesn't cause any symptoms and.
%20vaccination/og.png)
Patient information leaflet
Vaccinazione contro il virus respiratorio sinciziale (RSV)
Around 20 to 30 children a year die from RSV infections in the UK. RSV infection also causes more severe lung infections in older people, and often causes them to be admitted to hospital. The RSV vaccine used in the UK è Abrysvo. This is a subunit vaccine, which means it contains purified parts of the RSV virus. The vaccine trains the immune.
Patient information leaflet
Programma di screening del NHS
Screening involves test on people without symptoms to check if they have a disease or condition before it causes symptoms. The reason for screening is the expectation that a problem can be discovered in the early stages and either prevented from progressing further or treated before they cause significant problems. Not all conditions have.
Patient information leaflet
Psoriasi ungueale
Psoriasis is a persistent (chronic) skin condition which tends to flare up from time to time. About half of the people who have psoriasis also have changes affecting their nails. Psoriatic nail disease is very variable in appearance and severity. Psoriasis affecting the nails can be mild and not need any treatment. More severe nail psoriasis is.
Ulteriori letture e riferimenti
- SPG7 matrix AAA peptidase subunit, paraplegin; MedlinePlus, National Library of Medicine.
- Atorino L, Silvestri L, Koppen M, Cassina L, Ballabio A, Marconi R, Langer T, Casari G. Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia. J Cell Biol. 2003 Nov 24;163(4):777-87. doi: 10.1083/jcb.200304112. Epub 2003 Nov 17.
- Coarelli G, Schule R, van de Warrenburg BPC, De Jonghe P, Ewenczyk C, Martinuzzi A, Synofzik M, Hamer EG, Baets J, Anheim M, Schols L, Deconinck T, Masrori P, Fontaine B, Klockgether T, D'Angelo MG, Monin ML, De Bleecker J, Migeotte I, Charles P, Bassi MT, Klopstock T, Mochel F, Ollagnon-Roman E, D'Hooghe M, Kamm C, Kurzwelly D, Papin M, Davoine CS, Banneau G, Tezenas du Montcel S, Seilhean D, Brice A, Duyckaerts C, Stevanin G, Durr A. Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7. Neurology. 2019 Jun 4;92(23):e2679-e2690. doi: 10.1212/WNL.0000000000007606. Epub 2019 May 8.
- Hedera P. SPG7-Related Neurologic Disorder. 2006 Aug 24 [updated 2026 Jan 8]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1107/
- Patron M, Sprenger HG, Langer T. m-AAA proteases, mitochondrial calcium homeostasis and neurodegeneration. Cell Res. 2018 Mar;28(3):296-306. doi: 10.1038/cr.2018.17. Epub 2018 Feb 16.
- Settasatian C, Whitmore SA, Crawford J, Bilton RL, Cleton-Jansen AM, Sutherland GR, Callen DF. Genomic structure and expression analysis of the spastic paraplegia gene, SPG7. Hum Genet. 1999 Jul-Aug;105(1-2):139-44. doi: 10.1007/s004399900087.
- SPG7 mutations are a common cause of undiagnosed ataxia. Neurology. 2015 May 5;84(18):1911. doi: 10.1212/WNL.0000000000001628. No abstract available.
- Wilkinson PA, Crosby AH, Turner C, Bradley LJ, Ginsberg L, Wood NW, Schapira AH, Warner TT. A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia. Brain. 2004 May;127(Pt 5):973-80. doi: 10.1093/brain/awh125. Epub 2004 Feb 25.
Storia dell'articolo
Articolo disponibile anche in Inglese, Tedesco, Spagnolo, Francese, Italiano, Portoghese, Hindi, Ebraico, Arabo, and Svedese.
28 Giugno 2022 | Ultima versione
1 Jul 2020 | Pubblicato originariamente
Partecipa alla conversazione
Condividi i tuoi pensieri o esperienze con gli altri nel nostro comunità di pazienti.
Chiedi, condividi, connettiti.
Esplora le discussioni, fai domande e condividi esperienze su centinaia di argomenti di salute.
Iscriviti alla newsletter di Patient
La tua dose settimanale di consigli sulla salute chiari e affidabili - scritti per aiutarti a sentirti informato, sicuro e in controllo.
Abbonandoti accetti i nostri Informativa sulla Privacy. Puoi annullare l'iscrizione in qualsiasi momento. Non vendiamo mai i tuoi dati.