Fukutin is a eukaryotic protein necessary for the maintenance of muscle integrity, corticalhistogenesis, and normal ocular development. Mutations in the fukutin gene have been shown to result in Fukuyama congenital muscular dystrophy (FCMD) characterised by brain malformation - one of the most common autosomal-recessive disorders in Japan.[5] In humans this protein is encoded by the FCMDgene (also named FKTN), located on chromosome9q31.[6][7][8] Human fukutin exhibits a length of 461 amino acids and a predicted molecular mass of 53.7 kDa.
Although its function is mostly unknown, fukutin is a putative transmembrane protein that is ubiquitously expressed, although at higher levels in skeletal muscle, heart and brain.[9] It is localized to the cis-Golgi compartment, where it may be involved in the glycosylation of α-dystroglycan in skeletal muscle. The encoded protein is thought to be a glycosyltransferase and could play a role in brain development.[7] Fukutin is expressed in the mammalian retina and is located in the Golgi complex of retinal neurons.[10]
^Toda T, Segawa M, Nomura Y, Nonaka I, Masuda K, Ishihara T, Sakai M, Tomita I, Origuchi Y, Suzuki M (November 1993). "Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33". Nat. Genet. 5 (3): 283–6. doi:10.1038/ng1193-283. PMID8275093. S2CID21435748.
^Hayashi YK, Ogawa M, Tagawa K, Noguchi S, Ishihara T, Nonaka I, Arahata K (July 2001). "Selective deficiency of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy". Neurology. 57 (1): 115–21. doi:10.1212/wnl.57.1.115. PMID11445638. S2CID86733816.
^Haro, C., Uribe, M.L., Quereda, C., Cruces, J. and Martín-Nieto, J. (2018) Expression in retinal neurons of fukutin and FKRP, the protein products of two dystroglycanopathy-causative genes. Molecular Vision 24, 43-58.
^Murakami T, Hayashi YK, Noguchi S, et al. (November 2006). "Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness". Ann. Neurol. 60 (5): 597–602. CiteSeerX10.1.1.515.1578. doi:10.1002/ana.20973. PMID17036286.
Matsumoto H, Noguchi S, Sugie K, et al. (2004). "Subcellular localization of fukutin and fukutin-related protein in muscle cells". J. Biochem. 135 (6): 709–12. doi:10.1093/jb/mvh086. PMID15213246.
Toda T (1999). "[Fukutin, a novel protein product responsible for Fukuyama-type congenital muscular dystrophy]". Seikagaku. 71 (1): 55–61. PMID10067123.
Vuillaumier-Barrot S, Quijano-Roy S, Bouchet-Seraphin C, et al. (2009). "Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype". Neuromuscul. Disord. 19 (3): 182–8. doi:10.1016/j.nmd.2008.12.005. PMID19179078. S2CID207264089.
Yamamoto T, Kawaguchi M, Sakayori N, et al. (2006). "Intracellular binding of fukutin and alpha-dystroglycan: relation to glycosylation of alpha-dystroglycan". Neurosci. Res. 56 (4): 391–9. doi:10.1016/j.neures.2006.08.009. PMID17005282. S2CID53172961.
Saredi S, Ruggieri A, Mottarelli E, et al. (2009). "Fukutin gene mutations in an Italian patient with early onset muscular dystrophy but no central nervous system involvement". Muscle Nerve. 39 (6): 845–8. doi:10.1002/mus.21271. PMID19396839. S2CID32373751.
