Fukutin

FKTN
Identifiers
Aliases	FKTN, CMD1X, FCMD, LGMD2M, MDDGA4, MDDGB4, MDDGC4, fukutin, LGMDR13
External IDs	OMIM: 607440; MGI: 2179507; HomoloGene: 31402; GeneCards: FKTN; OMA:FKTN - orthologs
Gene location (Human) Chr. Chromosome 9 (human) Band 9q31.2 Start 105,558,122 bp End 105,653,820 bp
Gene location (Mouse) Chr. Chromosome 4 (mouse) Band 4 B2|4 28.74 cM Start 53,713,998 bp End 53,777,890 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Achilles tendon germinal epithelium testicle ventricular zone skin of hip Region I of hippocampus proper mucosa of paranasal sinus stromal cell of endometrium body of pancreas corpus callosum Top expressed in epithelium of lens seminal vesicula Rostral migratory stream Epithelium of choroid plexus interventricular septum trigeminal ganglion olfactory epithelium spermatocyte vestibular membrane of cochlear duct substantia nigra More reference expression data BioGPS n/a
Gene ontology Molecular function transferase activity protein binding Cellular component integral component of membrane Golgi membrane cis-Golgi network Golgi apparatus endoplasmic reticulum nucleus membrane extracellular space integral component of Golgi membrane cytoplasm Biological process negative regulation of JNK cascade protein glycosylation muscle organ development protein O-linked mannosylation regulation of protein glycosylation nervous system development negative regulation of cell population proliferation protein O-linked glycosylation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2218 246179 Ensembl ENSG00000106692 ENSMUSG00000028414 UniProt O75072 Q8R507 RefSeq (mRNA) NM_001079802 NM_001198963 NM_006731 NM_001351496 NM_001351497 NM_001351498 NM_001351499 NM_001351500 NM_001351501 NM_001351502 NM_139309 NM_001363126 NM_001363127 NM_001363128 RefSeq (protein) NP_001073270 NP_001185892 NP_006722 NP_001338425 NP_001338426 NP_001338427 NP_001338428 NP_001338429 NP_001338430 NP_001338431 NP_647470 NP_001350055 NP_001350056 NP_001350057 Location (UCSC) Chr 9: 105.56 – 105.65 Mb Chr 4: 53.71 – 53.78 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

Fukutin-related
Identifiers
Symbol	Fukutin-related
Pfam	PF04991
InterPro	IPR009644
Available protein structures: Pfam   structures / ECOD   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 (FCMD) 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. Fukutin is expressed in the mammalian retina and is located in the Golgi complex of retinal neurons.

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

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.
• 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.
• 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.
• 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. S2CID 20568065.
• 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. S2CID 20382548.
• 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.
• 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. hdl:10261/81951. PMID 18177472. S2CID 21991461.
• 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. S2CID 207264089.
• 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. S2CID 53172961.
• 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. S2CID 6864803.
• 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.
• 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): 648–650. doi:10.1038/ng.386. PMC 2942986. PMID 19448620.
• 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. S2CID 36402012.
• 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.
• 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. S2CID 32373751.
• 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.
• 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. S2CID 9429271.
• 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.

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.