FKTN
| Gene Symbol | FKTN |
|---|---|
| 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}. |
Human Fukutin protein fragment - ab152383 from Abcam
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FKTN / Fukutin Antibody Blocking Peptide - LS-E1938 from LifeSpan Bioscience
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Recombinant Human FKTN Protein - H00002218-Q01 from Novus Biologicals
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FKTN-Antibody-Center-Blocking-peptide - BP12786c from Abgent, a WuXi AppTec company
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FKTN Blocking Peptide - 33R-8971 from Fitzgerald
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Fukutin - H00002218-Q01-10 from Acris Antibodies
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Fukutin - H00002218-Q01-25 from Acris Antibodies
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FKTN fusion protein - Ag13067 from Proteintech Group
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Recombinant Human FKTN, His-tagged - FKTN-12921H from Creative Biomart
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Recombinant Human Fukutin(FKTN) - CSB-YP008709HU CSB-EP008709HU CSB-BP008709HU CSB-MP008709HU from Cusabio
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Fukutin (transcript variant 1) - TP311422 from Acris Antibodies
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FKTN Recombinant Protein Antigen - NBP1-84707PEP from Novus Biologicals
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FKTN Peptide, Human - M34GP05772H from Creative Peptides
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Fukutin, Recombinant Protein - MBS7042751 from MyBioSource
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Fukutin (FKTN), Recombinant Protein - MBS1150231 from MyBioSource
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