fukutin related protein
Zuletzt aktualisiert 3 Apr 2025
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Der FKRP gene provides instructions for making a protein called fukutin-related protein (FKRP). This protein is present in many of the body's tissues but is particularly abundant in the brain, heart (cardiac) muscle, and muscles used for movement (skeletal muscles). Within cells, FKRP is found in a specialized structure called the Golgi apparatus, where newly produced proteins are modified.
Normal function
Der FKRP gene provides instructions for making a protein called fukutin-related protein (FKRP). This protein is present in many of the body's tissues but is particularly abundant in the brain, heart (cardiac) muscle, and muscles used for movement (skeletal muscles). Within cells, FKRP is found in a specialized structure called the Golgi apparatus, where newly produced proteins are modified.
FKRP is involved in a process called glycosylation. Through this chemical process, sugar molecules are added to certain proteins. In particular, FKRP adds a molecule called ribitol 5-phosphate to the chain of sugars attached 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
Other names
FKRP_HUMAN
LGMD2I
MDC1C
MDDGA5
MDDGB5
MDDGC5
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Weiterführende Lektüre und Referenzen
- fukutin related protein; MedlinePlus, National Library of Medicine.
- Beltran-Valero de Bernabe D, Voit T, Longman C, Steinbrecher A, Straub V, Yuva Y, Herrmann R, Sperner J, Korenke C, Diesen C, Dobyns WB, Brunner HG, van Bokhoven H, Brockington M, Muntoni F. Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. J Med Genet. 2004 May;41(5):e61. doi: 10.1136/jmg.2003.013870. No abstract available.
- Boito CA, Melacini P, Vianello A, Prandini P, Gavassini BF, Bagattin A, Siciliano G, Angelini C, Pegoraro E. Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2I. Arch Neurol. 2005 Dec;62(12):1894-9. doi: 10.1001/archneur.62.12.1894.
- Esapa CT, Benson MA, Schroder JE, Martin-Rendon E, Brockington M, Brown SC, Muntoni F, Kroger S, Blake DJ. Functional requirements for fukutin-related protein in the Golgi apparatus. Hum Mol Genet. 2002 Dec 15;11(26):3319-31. doi: 10.1093/hmg/11.26.3319.
- Esapa CT, McIlhinney RA, Blake DJ. Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells. Hum Mol Genet. 2005 Jan 15;14(2):295-305. doi: 10.1093/hmg/ddi026. Epub 2004 Dec 1.
- 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.
- Kava M, Chitayat D, Blaser S, Ray PN, Vajsar J. Eye and brain abnormalities in congenital muscular dystrophies caused by fukutin-related protein gene (FKRP) mutations. Pediatr Neurol. 2013 Nov;49(5):374-8. doi: 10.1016/j.pediatrneurol.2013.06.022.
- Trovato R, Astrea G, Bartalena L, Ghirri P, Baldacci J, Giampietri M, Battini R, Santorelli FM, Fiorillo C. Elevated serum creatine kinase and small cerebellum prompt diagnosis of congenital muscular dystrophy due to FKRP mutations. J Child Neurol. 2014 Mar;29(3):394-8. doi: 10.1177/0883073812474951. Epub 2013 Feb 17.
- Willer T, Inamori K, Venzke D, Harvey C, Morgensen G, Hara Y, Beltran Valero de Bernabe D, Yu L, Wright KM, Campbell KP. The glucuronyltransferase B4GAT1 is required for initiation of LARGE-mediated alpha-dystroglycan functional glycosylation. Elife. 2014 Oct 3;3:e03941. doi: 10.7554/eLife.03941.
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3 Apr 2025 | Neueste Version
1 Jan 2017 | Ursprünglich veröffentlicht
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