Gene Symbol | FKRP |
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Entrez Gene | 79147 |
Alt Symbol | LGMD2I, MDC1C, MDDGA5, MDDGB5, MDDGC5 |
Species | Human |
Gene Type | protein-coding |
Description | fukutin related protein |
Other Description | fukutin-related protein |
Swissprots | A8K5G7 Q9H9S5 |
Accessions | CAE90537 EAW57444 EAW57445 Q9H9S5 AJ314847 CAC85633 AK022638 BAB14146 AK095497 BAG53071 AK291282 BAF83971 AW504292 BC002612 AAH02612 BM979509 CX866271 DA123579 DB090073 DN999716 DQ893605 ABM84531 DQ895127 ABM86053 XM_005259247 XP_005259304 XM_005259248 XP_005259305 XM_005259249 XP_005259306 XM_005259250 XP_005259307 XM_011527301 XP_011525603 XM_011527302 XP_011525604 XM_011527303 XP_011525605 XM_011527304 XP_011525606 XM_011527305 XP_011525607 XM_011527306 XP_011525608 XM_011527307 XP_011525609 NM_001039885 NP_001034974 NM_024301 NP_077277 |
Function | Transferase 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. {ECO:0000269|PubMed:25279699}. |
Subcellular Location | Golgi apparatus membrane {ECO:0000269|PubMed:25279699}; Single-pass type II membrane protein. Secreted. Cell membrane, sarcolemma {ECO:0000250}. Rough endoplasmic reticulum. Note=According to some studies the N- terminal hydrophobic domain is cleaved after translocation to the Golgi apparatus and the protein is secreted. Localization at the cell membrane may require the presence of dystroglycan. At the Golgi apparatus localizes to the middle-to-trans-cisternae, as assessed by MG160 colocalization. Detected in rough endoplasmic reticulum in myocytes. In general, mutants associated with severe clinical phenotypes are retained within the endoplasmic reticulum. |
Tissue Specificity | Expressed predominantly in skeletal muscle, placenta, and heart and relatively weakly in brain, lung, liver kidney and pancreas. |
FKRP CRISPR/Cas9 KO Plasmid (h) - sc-404396 from Santa Cruz Biotechnology
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FKRP HDR Plasmid (h) - sc-404396-HDR from Santa Cruz Biotechnology
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FKRP Double Nickase Plasmid (h) - sc-404396-NIC from Santa Cruz Biotechnology
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FKRP Double Nickase Plasmid (h2) - sc-404396-NIC-2 from Santa Cruz Biotechnology
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FKRP CRISPR Activation Plasmid (h) - sc-404396-ACT from Santa Cruz Biotechnology
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FKRP CRISPR Activation Plasmid (h2) - sc-404396-ACT-2 from Santa Cruz Biotechnology
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FKRP Lentiviral Activation Particles (h) - sc-404396-LAC from Santa Cruz Biotechnology
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FKRP Lentiviral Activation Particles (h2) - sc-404396-LAC-2 from Santa Cruz Biotechnology
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FKRP siRNA (h) - sc-60645 from Santa Cruz Biotechnology
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FKRP shRNA Plasmid (h) - sc-60645-SH from Santa Cruz Biotechnology
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FKRP shRNA (h) Lentiviral Particles - sc-60645-V from Santa Cruz Biotechnology
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CompoZr® Knockout ZFN Kit - CKOZFN8722 from Sigma-Aldrich
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CompoZr® Knockout ZFN Kit, ZFN plasmid only - CKOZFND8722 from Sigma-Aldrich
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FKRP siRNA (Human) - CRJ2328 from Cohesion Biosciences
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FKRP - MBS8210421 from MyBioSource
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FKRP CRISPR/Cas9 KO Plasmid (h2) - sc-404396-KO-2 from Santa Cruz Biotechnology
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FKRP HDR Plasmid (h2) - sc-404396-HDR-2 from Santa Cruz Biotechnology
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Human FKRP siRNA - orb272829 from Biorbyt
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FKRP shRNA Plasmid (Human) - CHJ2328 from Cohesion Biosciences
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