Property Summary

NCBI Gene PubMed Count 46
Grant Count 11
R01 Count 5
Funding $1,218,357
PubMed Score 228.45
PubTator Score 196.71

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (3)

Disease log2 FC p
Pick disease -1.300 0.000
progressive supranuclear palsy -1.100 0.019
ovarian cancer 1.100 0.001

 GO Function (1)

Gene RIF (19)

PMID Text
24530477 Mutation in the fukutin gene is associated with Fukuyama congenital muscular dystrophy and microcephaly.
20961758 four new non-Japanese patients with FKTN mutations and congenital muscular dystrophy
20620061 FKTN mutations are the most common genetic cause of congenital muscular dystrophies with defective alpha-dystroglycan glycosylation in Korea
19396839 We found fukutin gene mutations in a 4.5-year-old Italian patient, with reduced alpha-dystroglycan expression, dystrophic features on muscle biopsy, hypotonia since birth, mild myopathy, but no brain involvement.
19342235 Our results provide further evidence for ethnic and allelic heterogeneity and the presence of milder phenotypes in FKTN-dystroglycanopathy despite a substantial degree of alpha-dystroglycan hypoglycosylation in skeletal muscle.
19299310 Observational study of gene-disease association. (HuGE Navigator)
19266496 an identical homozygous c.1167insA mutation in the FKTN gene on a common haplotype in four families and identified 2/299 (0.7%) carriers for the c.1167insA mutation among normal American Ashkenazi Jewish adults
19179078 Outside Japan, fukutinopathies are associated with a large spectrum of phenotypes from isolated hyperCKaemia to severe CMD, showing a clear overlap with that of FKRP.
19015585 The compound heterozygous FKTN mutation was a rare cause of dilated cardiomyopathy. Hyper-CKemia might be indicative of FKTN mutation in dilated cardiomyopathy.
19015585 Observational study of gene-disease association. (HuGE Navigator)
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AA Sequence

MSRINKNVVLALLTLTSSAFLLFQLYYYKHYLSTKNGAGLSKSKGSRIGFDSTQWRAVKKFIMLTSNQNV      1 - 70
PVFLIDPLILELINKNFEQVKNTSHGSTSQCKFFCVPRDFTAFALQYHLWKNEEGWFRIAENMGFQCLKI     71 - 140
ESKDPRLDGIDSLSGTEIPLHYICKLATHAIHLVVFHERSGNYLWHGHLRLKEHIDRKFVPFRKLQFGRY    141 - 210
PGAFDRPELQQVTVDGLEVLIPKDPMHFVEEVPHSRFIECRYKEARAFFQQYLDDNTVEAVAFRKSAKEL    211 - 280
LQLAAKTLNKLGVPFWLSSGTCLGWYRQCNIIPYSKDVDLGIFIQDYKSDIILAFQDAGLPLKHKFGKVE    281 - 350
DSLELSFQGKDDVKLDVFFFYEETDHMWNGGTQAKTGKKFKYLFPKFTLCWTEFVDMKVHVPCETLEYIE    351 - 420
ANYGKTWKIPVKTWDWKRSPPNVQPNGIWPISEWDEVIQLY                                 421 - 461
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Text Mined References (45)

PMID Year Title
25279699 2014 The glucuronyltransferase B4GAT1 is required for initiation of LARGE-mediated ?-dystroglycan functional glycosylation.
24530477 2014 Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephaly.
22958903 2012 Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome.
22589738 2012 Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
21979053 2011 Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy.
20961758 2011 Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype.
20620061 2010 Fukutin mutations in congenital muscular dystrophies with defective glycosylation of dystroglycan in Korea.
19448620 2009 Meta-analysis of genome-wide association data identifies two loci influencing age at menarche.
19396839 2009 Fukutin gene mutations in an Italian patient with early onset muscular dystrophy but no central nervous system involvement.
19342235 2009 Further evidence of Fukutin mutations as a cause of childhood onset limb-girdle muscular dystrophy without mental retardation.
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