fukutin

フクチン

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/04/20 13:40:57」(JST)

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Fukutin
Identifiers
Symbols	FKTN ; CMD1X; FCMD; LGMD2M; MDDGA4; MDDGB4; MDDGC4
External IDs	OMIM: 607440 MGI: 2179507 HomoloGene: 31402 GeneCards: FKTN Gene
Gene ontology Molecular function • transferase activity Cellular component • Golgi membrane • extracellular space • nucleus • endoplasmic reticulum • Golgi apparatus • cis-Golgi network • integral to membrane Biological process • nervous system development • muscle organ development • negative regulation of cell proliferation • negative regulation of JNK cascade • regulation of protein glycosylation Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	2218	246179
Ensembl	ENSG00000106692	ENSMUSG00000028414
UniProt	O75072	Q8R507
RefSeq (mRNA)	NM_001079802	NM_139309
RefSeq (protein)	NP_001073270	NP_647470
Location (UCSC)	Chr 9: 108.32 – 108.4 Mb	Chr 4: 53.71 – 53.77 Mb
PubMed search	[1]	[2]

Fukutin-related
Identifiers
Symbol	Fukutin-related
Pfam	PF04991
InterPro	IPR009644
Available protein structures: Pfam structures PDB RCSB PDB; PDBe; PDBj PDBsum structure summary

Fukutin is a eukaryotic protein necessary for the maintenance of muscle integrity, cortical histogenesis, and normal ocular development. Mutations in the fukutin gene have been shown to result in Fukuyama congenital muscular dystrophy characterised by brain malformation - one of the most common autosomal-recessive disorders in Japan. In humans this protein is encoded by the FCMD gene (also named FKTN), located on chromosome 9q31. Human fukutin exhibits a length of 461 amino acids and a predicted molecular mass of 53.7 kDa.

Function

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. 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.

Clinical significance

Defects in this gene are a cause of Fukuyama congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), limb-girdle muscular dystrophy type 2M (LGMD2M), and dilated cardiomyopathy type 1X (CMD1X).

See also

• Fukutin-related protein

References

Further reading

• 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. PMID 15213246.  CS1 maint: Explicit use of et al. (link)
• Puckett RL, Moore SA, Winder TL et al. (2009). "Further evidence of Fukutin mutations as a cause of childhood onset limb-girdle muscular dystrophy without mental retardation.". Neuromuscul. Disord. 19 (5): 352–6. doi:10.1016/j.nmd.2009.03.001. PMC 2698593. PMID 19342235.  CS1 maint: Explicit use of et al. (link)
• Chung W, Winder TL, LeDuc CA et al. (2009). "Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families.". Prenat. Diagn. 29 (6): 560–9. doi:10.1002/pd.2238. PMC 2735827. PMID 19266496.  CS1 maint: Explicit use of et al. (link)
• Percival JM, Froehner SC (2007). "Golgi complex organization in skeletal muscle: a role for Golgi-mediated glycosylation in muscular dystrophies?". Traffic 8 (3): 184–94. doi:10.1111/j.1600-0854.2006.00523.x. PMID 17319799. 
• Toda T (1999). "[Fukutin, a novel protein product responsible for Fukuyama-type congenital muscular dystrophy]". Seikagaku 71 (1): 55–61. PMID 10067123. 
• Toda T, Kobayashi K, Kondo-Iida E et al. (2000). "The Fukuyama congenital muscular dystrophy story.". Neuromuscul. Disord. 10 (3): 153–9. doi:10.1016/S0960-8966(99)00109-1. PMID 10734260.  CS1 maint: Explicit use of et al. (link)
• Kimura K, Wakamatsu A, Suzuki Y et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.  CS1 maint: Explicit use of et al. (link)
• Cotarelo RP, Valero MC, Prados B et al. (2008). "Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome.". Clin. Genet. 73 (2): 139–45. doi:10.1111/j.1399-0004.2007.00936.x. PMID 18177472.  CS1 maint: Explicit use of et al. (link)
• 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. PMID 19179078.  CS1 maint: Explicit use of et al. (link)
• 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. PMID 17005282.  CS1 maint: Explicit use of et al. (link)
• Yoshioka M (2009). "Phenotypic spectrum of Fukutinopathy: most severe phenotype of Fukutinopathy.". Brain Dev. 31 (6): 419–22. doi:10.1016/j.braindev.2008.07.012. PMID 18834683. 
• Manzini MC, Gleason D, Chang BS et al. (2008). "Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.". Hum. Mutat. 29 (11): E231–41. doi:10.1002/humu.20844. PMC 2577713. PMID 18752264.  CS1 maint: Explicit use of et al. (link)
• Perry JR, Stolk L, Franceschini N et al. (2009). "Meta-analysis of genome-wide association data identifies two loci influencing age at menarche.". Nat. Genet. 41 (6): HASH(0x118f3f0). doi:10.1038/ng.386. PMC 2942986. PMID 19448620.  CS1 maint: Explicit use of et al. (link)
• Godfrey C, Escolar D, Brockington M et al. (2006). "Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy.". Ann. Neurol. 60 (5): 603–10. doi:10.1002/ana.21006. PMID 17044012.  CS1 maint: Explicit use of et al. (link)
• Godfrey C, Clement E, Mein R et al. (2007). "Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.". Brain 130 (Pt 10): 2725–35. doi:10.1093/brain/awm212. PMID 17878207.  CS1 maint: Explicit use of et al. (link)
• 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. PMID 19396839.  CS1 maint: Explicit use of et al. (link)
• Gerhard DS, Wagner L, Feingold EA et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.  CS1 maint: Explicit use of et al. (link)
• Mercuri E, Messina S, Bruno C et al. (2009). "Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.". Neurology 72 (21): 1802–9. doi:10.1212/01.wnl.0000346518.68110.60. PMID 19299310.  CS1 maint: Explicit use of et al. (link)
• Arimura T, Hayashi YK, Murakami T et al. (2009). "Mutational analysis of fukutin gene in dilated cardiomyopathy and hypertrophic cardiomyopathy.". Circ. J. 73 (1): 158–61. doi:10.1253/circj.CJ-08-0722. PMID 19015585.  CS1 maint: Explicit use of et al. (link)

External links

• GeneReviews/NCBI/NIH/UW entry on Congenital Muscular Dystrophy Overview
• LOVD mutation database: FKTN

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

UpToDate Contents

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• 1. 眼咽頭型、遠位型，および先天性筋ジストロフィー oculopharyngeal distal and congenital muscular dystrophies
• 2. 肢帯型筋ジストロフィー limb girdle muscular dystrophy
• 3. デュシェンヌ型およびベッカー型筋ジストロフィーの臨床的特徴および診断 clinical features and diagnosis of duchenne and becker muscular dystrophy

English Journal

• Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy.

• Taniguchi-Ikeda M, Kobayashi K, Kanagawa M, Yu CC, Mori K, Oda T, Kuga A, Kurahashi H, Akman HO, Dimauro S, Kaji R, Yokota T, Takeda S, Toda T.Source1] Division of Neurology/Molecular Brain Science, Kobe University Graduate School of Medicine, Kobe 650-0017, Japan [2] Division of General Pediatrics, Kobe University Graduate School of Medicine, Kobe 650-0017, Japan [3].
• Nature.Nature.2011 Oct 5;478(7367):127-31. doi: 10.1038/nature10456.
• Fukuyama muscular dystrophy (FCMD; MIM253800), one of the most common autosomal recessive disorders in Japan, was the first human disease found to result from ancestral insertion of a SINE-VNTR-Alu (SVA) retrotransposon into a causative gene. In FCMD, the SVA insertion occurs in the 3' untranslated
• PMID 21979053

• Abnormal vascular development in zebrafish models for fukutin and FKRP deficiency.

• Wood AJ, Muller JS, Jepson CD, Laval SH, Lochmuller H, Bushby K, Barresi R, Straub V.SourceInternational Centre for Life, Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.
• Human molecular genetics.Hum Mol Genet.2011 Sep 27. [Epub ahead of print]
• Fukutin and fukutin-related protein (FKRP) are involved in the glycosylation of α-dystroglycan, a key receptor for basement membrane proteins. Aberrant α-dystroglycan glycosylation leads to a broad spectrum of disorders, ranging from limb girdle muscular dystrophy to Walker-Warburg syndrome. This
• PMID 21926082

Japanese Journal

• 福山型先天性筋ジストロフィーの中枢神経病変の解析および原因遺伝子fukutinの役割

• 山本 智子,廣井 敦子,柴田 亮行,大澤 真木子,小林 槇雄
• 東京女子医科大学雑誌 81(E1), E25-E36, 2011-03-31
• … 原因遺伝子fukutinの遺伝子産物は、基底膜形成に関与するα-dystroglycan (α-DG) の糖鎖修飾に関与する。 … Fukutinは、さらに、未熟な神経細胞の遊走を促進している可能性があり、また、成熟神経細胞においては、シナプス機能と関連している可能性も考えられる。 …
• NAID 110008439096

• Roles of Fukutin, the Gene Responsible for Fukuyama-Type Congenital Muscular Dystrophy, in Neurons: Possible Involvement in Synaptic Function and Neuronal Migration

• Hiroi Atsuko,Yamamoto Tomoko,Shibata Noriyuki,Osawa Makiko,Kobayashi Makio
• ACTA HISTOCHEMICA ET CYTOCHEMICA advpub(0), 1104190106, 2011
• … Fukutin is a gene responsible for Fukuyama-type congenital muscular dystrophy (FCMD), accompanying ocular and brain malformations represented by cobblestone lissencephaly. … Fukutin is related to basement membrane formation via the glycosylation of α-dystoglycan (α-DG), and astrocytes play a crucial role in the pathogenesis of the brain lesion. …
• NAID 130000648761

Related Links

• 糖鎖

なお、POMT1の欠損以外にも、少なくとも、フクチン（fukutin）遺伝子、FKRP（fukutin related protein）遺伝子の異常 ... フクチン（fukutin）の機能は、今だ十分に解明され ていないが、糖鎖修飾に関係している（フクチンは、細菌の糖転移酵素とアミノ酸配列が 似て ...

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