FKTN Products

Description

FKTN genes encode fukutin proteins that in isoform 1 are 461 amino acids long at 54 kDA and at isoform 2 are 430 amino acids long at 49 kDA. These proteins are thought to participate in glycosylation of alpha-dystroglycan/DAG1 as it is probably a glycosyltransferase. Additionally, it may reinforce large a complex surrounding the outside and inside of muscle membranes, further enhancing brain development. FKTN is involved with the CNBP gene. Defects in this gene cause myscular dystrophy-dystroglycanopathy congenital types A4, B4, C4, and cadiomyopathy dilated type 1X. FKTN is also linked to optic atrophy, cleft lip, walker-warburg syndrome, dubowitz syndrome, retinal detachment, and neuronal migration disorders.

Bioinformatics

Entrez	2218 Human
Uniprot	O75072 Human NP_006722 Human NM_001079802 Human
Product By Gene ID	2218
Alternate Names	Fukuyama type congenital muscular dystrophy (fukutin) Fukuyama-type congenital muscular dystrophy protein MDDGC4 EC 2.- MDDGB4 Fukuyama type congenital muscular dystrophy protein MDDGA4 MGC138243 CMD1X FCMDMGC134945 LGMD2MMGC134944 MGC126857 fukutin

Diseases related to FKTN

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Muscular Dystrophy
Dystrophy
Congenital Muscular Dystrophy (disorder)
Fukuyama Type Congenital Muscular Dystrophy
Walker-warburg Congenital Muscular Dystrophy
Lissencephaly
Weakness
Muscular Dystrophies, Limb-girdle
Muscle Weakness
Muscle Eye Brain Disease
Coronary Microvascular Disease
Nervousness
Dysplasia
Congenital Anomaly Of Brain
Cobblestone Lissencephaly
Muscle Hypotonia
Eye Abnormalities
Alpha-dystroglycanopathies

Pathways for FKTN

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Glycosylation
Pathogenesis
Localization
Brain Development
Muscle Hypertrophy
Cell Adhesion
Cell Proliferation
Aging
Protein Glycosylation
Regeneration
Mrna Splicing
Translation
Lipid Storage
Menarche
Rna Interference
Secretion

Research Areas for FKTN

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Neuroscience

PTMs for FKTN

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Glycosylation
Phosphorylation

Bioinformatics Tool for FKTN

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