Gene Symbol | FKTN |
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Entrez Gene | 2218 |
Alt Symbol | CMD1X, FCMD, LGMD2M, MDDGA4, MDDGB4, MDDGC4 |
Species | Human |
Gene Type | protein-coding |
Description | fukutin |
Other Description | Fukuyama type congenital muscular dystrophy protein|patient fukutin |
Swissprots | Q3MIJ1 B4DUX9 Q96TE1 J3KP13 Q9P295 O75072 |
Accessions | BAA94082 EAW59001 O75072 AB008226 BAA32000 AB609007 BAL04096 AK300840 BAG62491 AK304460 BAG65276 AL601876 AW014603 BC058842 BC101808 AAI01809 BC112038 AAI12039 BC117699 AAI17700 BC117700 AAI17701 DA917113 XM_006717014 XP_006717077 XM_011518368 XP_011516670 XM_011518369 XP_011516671 XM_011518370 XP_011516672 XM_011518371 XP_011516673 XM_011518372 XP_011516674 XM_011518373 XP_011516675 XM_011518374 XP_011516676 XM_011518375 XP_011516677 XM_011518376 XP_011516678 XM_011518377 XP_011516679 XM_011518378 XP_011516680 XM_011518379 XP_011516681 XM_011518380 XP_011516682 XM_011518381 XP_011516683 XM_011518382 XP_011516684 XM_011518383 XP_011516685 XM_011518384 XP_011516686 XM_011518385 XP_011516687 XM_011518386 XP_011516688 XM_011518387 XP_011516689 XM_011518388 XP_011516690 XM_011518389 XP_011516691 XM_011518390 XP_011516692 XM_011518391 XP_011516693 NM_001079802 NP_001073270 NM_001198963 NP_001185892 NM_006731 NP_006722 |
Function | Glycosyltransferase involved in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine- beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity. May interact with and reinforce a large complex encompassing the outside and inside of muscle membranes. Could be involved in brain development. {ECO:0000269|PubMed:25279699}. |
Subcellular Location | Golgi apparatus membrane {ECO:0000269|PubMed:25279699}; Single-pass type II membrane protein {ECO:0000305}. |
Tissue Specificity | Widely expressed with highest expression in brain, heart, pancreas and skeletal muscle. Expressed at similar levels in control fetal and adult brain, but is much reduced in Fukuyama-type congenital dystrophy (FCMD) brains. Expressed in migrating neurons, including Cajar-Retzius cells and adult cortical neurons, as well as hippocampal pyramidal cells and cerebellar Purkinje cells. No expression observed in the glia limitans, the subpial astrocytes (which contribute to basement membrane formation) or other glial cells. In the FCMD brain, neurons in regions with no dysplasia show fair expression, whereas transcripts are nearly undetectable in the overmigrated dysplastic region. {ECO:0000269|PubMed:11115853}. |
Fukutin (C-20) - sc-23831 from Santa Cruz Biotechnology
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Fukutin (H-300) - sc-134573 from Santa Cruz Biotechnology
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Fukutin (N-18) - sc-23829 from Santa Cruz Biotechnology
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Fukutin (N-19) - sc-48507 from Santa Cruz Biotechnology
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Anti-Fukutin antibody - ab113233 from Abcam
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Anti-Fukutin antibody - ab171195 from Abcam
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Anti-Fukutin antibody - ab97637 from Abcam
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Anti-Fukutin antibody - ab194483 from Abcam
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Anti-Fukutin antibody [EPR7913] - ab131280 from Abcam
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Anti-FKTN / Fukutin Antibody (aa338-353) - LS-C3332 from LifeSpan Bioscience
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Anti-FKTN / Fukutin Antibody (aa184-214, APC) - LS-C235322 from LifeSpan Bioscience
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Anti-FKTN / Fukutin Antibody (aa184-214, Biotin) - LS-C235323 from LifeSpan Bioscience
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Anti-FKTN / Fukutin Antibody (aa184-214, AP) - LS-C235321 from LifeSpan Bioscience
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Anti-FKTN / Fukutin Antibody (aa184-214, PE) - LS-C235326 from LifeSpan Bioscience
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Anti-FKTN / Fukutin Antibody (aa184-214, Azide-free, HRP) - LS-C248996 from LifeSpan Bioscience
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Anti-FKTN / Fukutin Antibody (aa184-214, FITC) - LS-C235324 from LifeSpan Bioscience
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Anti-FKTN / Fukutin Antibody (aa184-214) - LS-C321402 from LifeSpan Bioscience
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Anti-FKTN / Fukutin Antibody (aa214-263) - LS-C201485 from LifeSpan Bioscience
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Anti-FKTN / Fukutin Antibody (N-Terminus) - LS-C201484 from LifeSpan Bioscience
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Anti-FKTN / Fukutin Antibody (Internal, clone EPR7913) - LS-C154579 from LifeSpan Bioscience
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Anti-FKTN / Fukutin Antibody (aa111-160) - LS-C40509 from LifeSpan Bioscience
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Anti-FKTN / Fukutin Antibody (aa177-206) - LS-C166171 from LifeSpan Bioscience
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Anti-FKTN / Fukutin Antibody IHC-plus⢠- LS-B4851 from LifeSpan Bioscience
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FKTN Antibody - NBP1-59640 from Novus Biologicals
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FKTN Antibody - NBP1-33383 from Novus Biologicals
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