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Fukutin

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Identifiers
SymbolsFKTN ; CMD1X; FCMD; LGMD2M; MDDGA4; MDDGB4; MDDGC4
External IDsOMIM607440 MGI2179507 HomoloGene31402 GeneCards: FKTN Gene
Orthologs
SpeciesHumanMouse
Entrez2218246179
EnsemblENSG00000106692ENSMUSG00000028414
UniProtO75072Q8R507
RefSeq (mRNA)NM_001079802NM_139309
RefSeq (protein)NP_001073270NP_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

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.[1] In humans this protein is encoded by the FCMD gene (also named FKTN), located on chromosome 9q31.[2][3][4] 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.[5] 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.[3]

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).[3][6]

See also

References

  1. ^ Kobayashi K, Shimizu T, Arai K, Nakamura Y, Fukui T, Toda T, Matsumura K, Imamura M, Takeda S, Kondo M, Sasaki J, Kurahashi H, Kano H, Misaki K, Tachikawa M, Murakami T, Sunada Y, Fujikado T, Terashima T (2003). "Fukutin is required for maintenance of muscle integrity, cortical histiogenesis and normal eye development". Hum. Mol. Genet. 12 (12): 1449–1459. PMID 12783852. doi:10.1093/hmg/ddg153. 
  2. ^ Toda T, Segawa M, Nomura Y, Nonaka I, Masuda K, Ishihara T, Sakai M, Tomita I, Origuchi Y, Suzuki M [corrected to Sakai M (November 1993). "Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33". Nat. Genet. 5 (3): 283–6. PMID 8275093. doi:10.1038/ng1193-283. 
  3. ^ a b c "Entrez Gene: fukutin". 
  4. ^ Online 'Mendelian Inheritance in Man' (OMIM) 607440
  5. ^ 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. PMID 11445638. doi:10.1212/wnl.57.1.115. 
  6. ^ 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. PMID 17036286. doi:10.1002/ana.20973. 

Further reading

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External links

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


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