fukutin
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The FKTN gene provides instructions for making an enzyme called fukutin. This enzyme is present in many of the body's tissues, but it is particularly abundant in the heart, brain, and the muscles used for movement (skeletal muscles). Within cells, fukutin is found in a specialized structure called the Golgi apparatus, where newly produced proteins are modified.
Normal function
The FKTN gene provides instructions for making an enzyme called fukutin. This enzyme is present in many of the body's tissues, but it is particularly abundant in the heart, brain, and the muscles used for movement (skeletal muscles). Within cells, fukutin is found in a specialized structure called the Golgi apparatus, where newly produced proteins are modified.
Fukutin is involved in a protein modification process called glycosylation. Through this chemical process, sugar molecules are added to certain proteins. Fukutin works closely with other enzymes to add ribitol phosphate molecules to the chain of sugars already attached to a protein called alpha-dystroglycan. Glycosylation is critical for the normal function of alpha-dystroglycan.
The alpha-dystroglycan protein helps anchor the structural framework inside each cell (cytoskeleton) to a network of molecules outside the cell (extracellular matrix). In skeletal muscles, alpha-dystroglycan helps stabilize and protect muscle fibers. In the brain, alpha-dystroglycan helps direct the movement (migration) of nerve cells (neurons) during early development.
Conditions referring to this gene or chromosome
Other names
FCMD
LGMD2M
Leitura adicional e referências
- fukutin; MedlinePlus, National Library of Medicine.
- Chang W, Winder TL, LeDuc CA, Simpson LL, Millar WS, Dungan J, Ginsberg N, Plaga S, Moore SA, Chung WK. Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families. Prenat Diagn. 2009 Jun;29(6):560-9. doi: 10.1002/pd.2238.
- Cotarelo RP, Valero MC, Prados B, Pena A, Rodriguez L, Fano O, Marco JJ, Martinez-Frias ML, Cruces J. Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome. Clin Genet. 2008 Feb;73(2):139-45. doi: 10.1111/j.1399-0004.2007.00936.x. Epub 2007 Dec 19.
- de Bernabe DB, van Bokhoven H, van Beusekom E, Van den Akker W, Kant S, Dobyns WB, Cormand B, Currier S, Hamel B, Talim B, Topaloglu H, Brunner HG. A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype. J Med Genet. 2003 Nov;40(11):845-8. doi: 10.1136/jmg.40.11.845. No abstract available.
- 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.
- Godfrey C, Escolar D, Brockington M, Clement EM, Mein R, Jimenez-Mallebrera C, Torelli S, Feng L, Brown SC, Sewry CA, Rutherford M, Shapira Y, Abbs S, Muntoni F. Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy. Ann Neurol. 2006 Nov;60(5):603-610. doi: 10.1002/ana.21006.
- Hayashi YK, Ogawa M, Tagawa K, Noguchi S, Ishihara T, Nonaka I, Arahata K. Selective deficiency of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy. Neurology. 2001 Jul 10;57(1):115-21. doi: 10.1212/wnl.57.1.115.
- 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.
- Kanagawa M, Toda T. Muscular Dystrophy with Ribitol-Phosphate Deficiency: A Novel Post-Translational Mechanism in Dystroglycanopathy. J Neuromuscul Dis. 2017;4(4):259-267. doi: 10.3233/JND-170255.
- Kondo-Iida E, Kobayashi K, Watanabe M, Sasaki J, Kumagai T, Koide H, Saito K, Osawa M, Nakamura Y, Toda T. Novel mutations and genotype-phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD). Hum Mol Genet. 1999 Nov;8(12):2303-9. doi: 10.1093/hmg/8.12.2303.
- Murakami T, Hayashi YK, Noguchi S, Ogawa M, Nonaka I, Tanabe Y, Ogino M, Takada F, Eriguchi M, Kotooka N, Campbell KP, Osawa M, Nishino I. Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness. Ann Neurol. 2006 Nov;60(5):597-602. doi: 10.1002/ana.20973.
- Saito Y, Yamamoto T, Mizuguchi M, Kobayashi M, Saito K, Ohno K, Osawa M. Altered glycosylation of alpha-dystroglycan in neurons of Fukuyama congenital muscular dystrophy brains. Brain Res. 2006 Feb 23;1075(1):223-8. doi: 10.1016/j.brainres.2005.12.108. Epub 2006 Feb 7.
- Toda T, Kobayashi K, Takeda S, Sasaki J, Kurahashi H, Kano H, Tachikawa M, Wang F, Nagai Y, Taniguchi K, Taniguchi M, Sunada Y, Terashima T, Endo T, Matsumura K. Fukuyama-type congenital muscular dystrophy (FCMD) and alpha-dystroglycanopathy. Congenit Anom (Kyoto). 2003 Jun;43(2):97-104. doi: 10.1111/j.1741-4520.2003.tb01033.x.
- Yis U, Uyanik G, Heck PB, Smitka M, Nobel H, Ebinger F, Dirik E, Feng L, Kurul SH, Brocke K, Unalp A, Ozer E, Cakmakci H, Sewry C, Cirak S, Muntoni F, Hehr U, Morris-Rosendahl DJ. Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype. Neuromuscul Disord. 2011 Jan;21(1):20-30. doi: 10.1016/j.nmd.2010.08.007. Epub 2010 Oct 18.
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