FKRP Gene

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Li, V. FKRP Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5534 (accessed on 21 September 2026).

Li V. FKRP Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5534. Accessed September 21, 2026.

Li, Vivi. "FKRP Gene" Encyclopedia, https://encyclopedia.pub/entry/5534 (accessed September 21, 2026).

Li, V. (2020, December 25). FKRP Gene. In Encyclopedia. https://encyclopedia.pub/entry/5534

Li, Vivi. "FKRP Gene." Encyclopedia. Web. 25 December, 2020.

FKRP Gene

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/fkrp

Fukutin related protein: The FKRP gene provides instructions for making a protein called fukutin-related protein (FKRP).

genes

References

Beltran-Valero de Bernabé D, Voit T, Longman C, Steinbrecher A, Straub V, YuvaY, Herrmann R, Sperner J, Korenke C, Diesen C, Dobyns WB, Brunner HG, vanBokhoven H, Brockington M, Muntoni F. Mutations in the FKRP gene can causemuscle-eye-brain disease and Walker-Warburg syndrome. J Med Genet. 2004May;41(5):e61.
Boito CA, Melacini P, Vianello A, Prandini P, Gavassini BF, Bagattin A,Siciliano G, Angelini C, Pegoraro E. Clinical and molecular characterization ofpatients with limb-girdle muscular dystrophy type 2I. Arch Neurol. 2005Dec;62(12):1894-9.
Esapa CT, Benson MA, Schröder JE, Martin-Rendon E, Brockington M, Brown SC,Muntoni F, Kröger S, Blake DJ. Functional requirements for fukutin-relatedprotein in the Golgi apparatus. Hum Mol Genet. 2002 Dec 15;11(26):3319-31.
Esapa CT, McIlhinney RA, Blake DJ. Fukutin-related protein mutations thatcause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells. Hum Mol Genet. 2005 Jan 15;14(2):295-305.
Gerin I, Ury B, Breloy I, Bouchet-Seraphin C, Bolsée 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 α-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-ManyaK, Furukawa JI, Mizuno M, Kawakami H, Shinohara Y, Wada Y, Endo T, Toda T.Identification of a Post-translational Modification with Ribitol-Phosphate andIts Defect in Muscular Dystrophy. Cell Rep. 2016 Mar 8;14(9):2209-2223. doi:10.1016/j.celrep.2016.02.017.
Kava M, Chitayat D, Blaser S, Ray PN, Vajsar J. Eye and brain abnormalities incongenital 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 cerebellumprompt diagnosis of congenital muscular dystrophy due to FKRP mutations. J Child Neurol. 2014 Mar;29(3):394-8. doi: 10.1177/0883073812474951.
Willer T, Inamori K, Venzke D, Harvey C, Morgensen G, Hara Y, Beltrán Valerode Bernabé D, Yu L, Wright KM, Campbell KP. The glucuronyltransferase B4GAT1 isrequired for initiation of LARGE-mediated α-dystroglycan functionalglycosylation. Elife. 2014 Oct 3;3. doi: 10.7554/eLife.03941.

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Subjects: Genetics & Heredity

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Update Date: 25 Dec 2020

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