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Fukutin

Fukutin is a protein that in humans is encoded by the FKTN gene. It is necessary for the maintenance of muscle integrity, cortical histogenesis, and normal ocular development. In humans this protein is encoded by the FCMD gene (also named FKTN), located on chromosome9q31. The FKTN gene encodes a type II transmembrane protein that is central to the Golgi…

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Aliases
FKTN, CMD1X, FCMD, LGMD2M, MDDGA4, MDDGB4, MDDGC4, fukutin, LGMDR13
Band
9q31.2 · 4 B2|4 28.74 cM
Bgee
Achilles tendon · germinal epithelium · testicle · ventricular zone · skin of hip
BioGPS
n/a
Chr.
Chromosome 9 (human) · Chromosome 4 (mouse)
Databases
NCBI: entry; OMA: entry

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Clinical significance

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Map overview Semantic statistics

Fukutin

Nodes40
Edges39
Triples157
Avg. degree1.95
Density0.05
Components1

How this topic connects Entity context

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Fukutin

Top relations

Bgee · 20
Fukutin → Achilles tendon, body of pancreas, corpus callosum, Epithelium of choroid plexus, epithelium of lens, germinal epithelium, interventricular septum, mucosa of paranasal sinus, olfactory epithelium, Region I of hippocampus proper, Rostral migratory stream, seminal vesicula, skin of hip, spermatocyte, stromal cell of endometrium, substantia nigra, testicle, trigeminal ganglion, ventricular zone, vestibular membrane of cochlear duct
Gene ontology · 20
Fukutin → cis-Golgi network, cytoplasm, endoplasmic reticulum, extracellular space, Golgi apparatus, Golgi membrane, integral component of Golgi membrane, integral component of membrane, membrane, muscle organ development, negative regulation of cell population proliferation, negative regulation of JNK cascade, nervous system development, nucleus, protein binding, protein glycosylation, protein O-linked glycosylation, protein O-linked mannosylation, regulation of protein glycosylation, transferase activity
RNA expression pattern · 20
Fukutin → Achilles tendon, body of pancreas, corpus callosum, Epithelium of choroid plexus, epithelium of lens, germinal epithelium, interventricular septum, mucosa of paranasal sinus, olfactory epithelium, Region I of hippocampus proper, Rostral migratory stream, seminal vesicula, skin of hip, spermatocyte, stromal cell of endometrium, substantia nigra, testicle, trigeminal ganglion, ventricular zone, vestibular membrane of cochlear duct
related to Clinical significance · 18
Fukutin → AP-1, CK, CMD1X, Cyclin D1, Defects, FKRP, Fukutin Related Protein, Fukutin- Related Protein, Fukuyama, LGMD2I/R9, LGMD2M, Limb- Girdle Muscular Dystrophy, R9, Suppressing, Type, Walker-Warburg, Walker-Warburg Syndrome, While
related to Discovery · 14
Fukutin → Atsuo Sasaki, FCMD, FKTN, Fukuyama, In, Japan, Japanese, Kazuhiro Kobayashi, Northern, Researchers, RT-PCR, Tatsushi Toda, The, They
related to Other disorders · 14
Fukutin → Absence, Defective, FKTN, Fukuyama, Japan, Lack, LGMD2M, Limb, Mutations, Progressive, The, These, This, Walker-Warburg
related to Function · 10
Fukutin → Although, AP-1, D1, DG, During, Golgi, It, Taken, The, This
related to Structure · 9
Fukutin → As, Fukutin's, Fukutins, Instead, Mg2, Regarding, Ribitol, The, This
related to Neurodegeneration · 4
Fukutin → GSK-3β, It, Suppression, This
is a · 3
Fukutin → crucial enzyme involved in modifying proteins, protein that in humans is encoded by the FKTN gene, putative transmembrane protein that is ubiquitously expressed

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Important terminology

protein gene muscle fktn may function muscular glycosylation also dystroglycan brain dystrophy cell bp development human congenital expression chr band

Entity relationships Subject–Predicate–Object triples

SubjectPredicateObjectConfidenceSrc
FukutinAliasesFKTN, CMD1X, FCMD, LGMD2M, MDDGA4, MDDGB4, MDDGC4, fukutin, LGMDR131.00infobox
FukutinBand9q31.21.00infobox
FukutinBand4 B2|4 28.74 cM1.00infobox
FukutinBgeeAchilles tendon1.00infobox
FukutinBgeegerminal epithelium1.00infobox
FukutinBgeetesticle1.00infobox
FukutinBgeeventricular zone1.00infobox
FukutinBgeeskin of hip1.00infobox
FukutinBgeeRegion I of hippocampus proper1.00infobox
FukutinBgeemucosa of paranasal sinus1.00infobox
FukutinBgeestromal cell of endometrium1.00infobox
FukutinBgeebody of pancreas1.00infobox
FukutinBgeecorpus callosum1.00infobox
FukutinBgeeepithelium of lens1.00infobox
FukutinBgeeseminal vesicula1.00infobox
FukutinBgeeRostral migratory stream1.00infobox
FukutinBgeeEpithelium of choroid plexus1.00infobox
FukutinBgeeinterventricular septum1.00infobox
FukutinBgeetrigeminal ganglion1.00infobox
FukutinBgeeolfactory epithelium1.00infobox
FukutinBgeespermatocyte1.00infobox
FukutinBgeevestibular membrane of cochlear duct1.00infobox
FukutinBgeesubstantia nigra1.00infobox
FukutinBioGPSn/a1.00infobox
FukutinChr.Chromosome 9 (human)1.00infobox
FukutinChr.Chromosome 4 (mouse)1.00infobox
FukutinDatabasesNCBI: entry; OMA: entry1.00infobox
FukutinEnd105,653,820 bp1.00infobox
FukutinEnd53,777,890 bp1.00infobox
FukutinEnsemblENSG000001066921.00infobox

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