CDP-L-ribitol pyrophosphorylase A
Ultimo aggiornamento 18 Ago 2020
Rispetta le linee guida editoriali
- ScaricaScarica
- Condividi
- Language
- Discussione
- Versione audio
- Aggiungi alle fonti preferite su Google
L CRPPA gene provides instructions for making a protein that is involved in a process called glycosylation. Through this chemical process, sugar molecules are added to certain proteins. In particular, the CRPPA protein helps produce a molecule called ribitol 5-phosphate, which is an important component of the chain of sugar molecules added to a protein called alpha (α)-dystroglycan. Glycosylation is critical for the normal function of α-dystroglycan.
Normal function
L CRPPA gene provides instructions for making a protein that is involved in a process called glycosylation. Through this chemical process, sugar molecules are added to certain proteins. In particular, the CRPPA protein helps produce a molecule called ribitol 5-phosphate, which is an important component of the chain of sugar molecules added to a protein called alpha (α)-dystroglycan. Glycosylation is critical for the normal function of α-dystroglycan.
The α-dystroglycan protein helps anchor the structural framework inside each cell (cytoskeleton) to the lattice of proteins and other molecules outside the cell (extracellular matrix). In skeletal muscles, glycosylated α-dystroglycan helps stabilize and protect muscle fibers. In the brain, it helps direct the movement (migration) of nerve cells (neurons) during early development.
Conditions referring to this gene or chromosome
Altri nomi
2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein
4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog
hCG_1745121
isoprenoid synthase domain containing
isoprenoid synthase domain-containing protein
ISPD
IspD
ISPD_HUMAN
MDDGA7
Nip
notch1-induced protein
Related patient information and medicines
Patient information leaflet
Tosse virale
Apart from a new continuous cough, other symptoms may include: A high temperature. A loss or change to your sense of taste or smell. See our separate editorial content called Coronavirus: what are asymptomatic and mild COVID-19? e Coronavirus: what are moderate, severe and critical COVID-19? for more details. The rest of this leaflet is about.
Patient information leaflet
Negligenza medica
C'è un separate Health Service Ombudsman for England, Scotland, Wales and Northern Ireland. L Health and Care Professions Council (HCPC), for art therapists, biomedical scientists, chiropodists and podiatrists, clinical scientists, dieticians, hearing aid dispensers, occupational therapists, operating department practitioners, orthopt....
Patient information leaflet
Streptococco A
Strep A, or Group A streptococcus, is a common type of bacteria, which has been recognised as a cause of infections for many years. Most Group A streptococcus infections are mild, but in rare cases, these can cause serious illness and even death. Strep A, or Group A streptococcus (GAS), è a type of bacteria, with the scientific name Streptococcus.
Patient information leaflet
Calcolatore dell'ovulazione
Open the ovulation calculator How does the ovulation calculator work. The ovulation calculator uses the date of your last period and your average cycle length to estimate your fertile window — the days when you're most likely to conceive. Ovulation usually happens about 14 days before your next period. By predicting this window, the tool helps.
Medicine leaflet
Preparazioni al fluoro per prevenire la carie dentale
Fluoride preparations help to prevent tooth decay. Use your fluoride product exactly as your doctor or dentist tells you to. Before giving a fluoride supp... About fluoride preparations Used for Prevention of tooth decay Also called Duraphat®; En-De-Kay®; Fluor-a-day®; FluoriGard®; Fluoritop®; oraNurse® Available as Tablets, oral drops, mouthwash.
Ulteriori letture e riferimenti
- CDP-L-ribitol pyrophosphorylase A; MedlinePlus, National Library of Medicine.
- Cirak S, Foley AR, Herrmann R, Willer T, Yau S, Stevens E, Torelli S, Brodd L, Kamynina A, Vondracek P, Roper H, Longman C, Korinthenberg R, Marrosu G, Nurnberg P; UK10K Consortium; Michele DE, Plagnol V, Hurles M, Moore SA, Sewry CA, Campbell KP, Voit T, Muntoni F. ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies. Brain. 2013 Jan;136(Pt 1):269-81. doi: 10.1093/brain/aws312. Epub 2013 Jan 3.
- Gerin I, Ury B, Breloy I, Bouchet-Seraphin C, Bolsee J, Halbout M, Graff J, Vertommen D, Muccioli GG, Seta N, Cuisset JM, Dabaj I, Quijano-Roy S, Grahn A, Van Schaftingen E, Bommer GT. ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto alpha-dystroglycan. Nat Commun. 2016 May 19;7:11534. doi: 10.1038/ncomms11534.
- Kanagawa M, Kobayashi K, Tajiri M, Manya H, Kuga A, Yamaguchi Y, Akasaka-Manya K, Furukawa JI, Mizuno M, Kawakami H, Shinohara Y, Wada Y, Endo T, Toda T. Identification of a Post-translational Modification with Ribitol-Phosphate and Its Defect in Muscular Dystrophy. Cell Rep. 2016 Mar 8;14(9):2209-2223. doi: 10.1016/j.celrep.2016.02.017. Epub 2016 Feb 25.
- Roscioli T, Kamsteeg EJ, Buysse K, Maystadt I, van Reeuwijk J, van den Elzen C, van Beusekom E, Riemersma M, Pfundt R, Vissers LE, Schraders M, Altunoglu U, Buckley MF, Brunner HG, Grisart B, Zhou H, Veltman JA, Gilissen C, Mancini GM, Delree P, Willemsen MA, Ramadza DP, Chitayat D, Bennett C, Sheridan E, Peeters EA, Tan-Sindhunata GM, de Die-Smulders CE, Devriendt K, Kayserili H, El-Hashash OA, Stemple DL, Lefeber DJ, Lin YY, van Bokhoven H. Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of alpha-dystroglycan. Nat Genet. 2012 May;44(5):581-5. doi: 10.1038/ng.2253.
- Tasca G, Moro F, Aiello C, Cassandrini D, Fiorillo C, Bertini E, Bruno C, Santorelli FM, Ricci E. Limb-girdle muscular dystrophy with alpha-dystroglycan deficiency and mutations in the ISPD gene. Neurology. 2013 Mar 5;80(10):963-5. doi: 10.1212/WNL.0b013e3182840cbc. Epub 2013 Feb 6. No abstract available.
- Willer T, Lee H, Lommel M, Yoshida-Moriguchi T, de Bernabe DB, Venzke D, Cirak S, Schachter H, Vajsar J, Voit T, Muntoni F, Loder AS, Dobyns WB, Winder TL, Strahl S, Mathews KD, Nelson SF, Moore SA, Campbell KP. ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. Nat Genet. 2012 May;44(5):575-80. doi: 10.1038/ng.2252.
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.