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Code | CSB-MP008709HU |
Size | |
Have Questions? | Leave a Message or Start an on-line Chat |
Target Names | FKTN |
Uniprot No. | O75072 |
Research Area | Biochemicals |
Alternative Names | FKTN; FCMD; Fukutin; Fukuyama-type congenital muscular dystrophy protein; Ribitol-5-phosphate transferase |
Species | Homo sapiens (Human) |
Source | Mammalian cell |
Expression Region | 1-461aa |
Target Protein Sequence | MSRINKNVVLALLTLTSSAFLLFQLYYYKHYLSTKNGAGLSKSKGSRIGFDSTQWRAVKKFIMLTSNQNVPVFLIDPLILELINKNFEQVKNTSHGSTSQCKFFCVPRDFTAFALQYHLWKNEEGWFRIAENMGFQCLKIESKDPRLDGIDSLSGTEIPLHYICKLATHAIHLVVFHERSGNYLWHGHLRLKEHIDRKFVPFRKLQFGRYPGAFDRPELQQVTVDGLEVLIPKDPMHFVEEVPHSRFIECRYKEARAFFQQYLDDNTVEAVAFRKSAKELLQLAAKTLNKLGVPFWLSSGTCLGWYRQCNIIPYSKDVDLGIFIQDYKSDIILAFQDAGLPLKHKFGKVEDSLELSFQGKDDVKLDVFFFYEETDHMWNGGTQAKTGKKFKYLFPKFTLCWTEFVDMKVHVPCETLEYIEANYGKTWKIPVKTWDWKRSPPNVQPNGIWPISEWDEVIQLY Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request. |
Tag Info |
C-terminal 10xHis-tagged If you have specified tag type, please tell us and we will check if it’s possible to develop. |
Form |
Lyophilized powder Note: We will default ship it in lyophilized form with normal bule ice packs. However, if you request to ship in liquid form, it needs to be shipped with dry ice, please communicate with us in advance and extra fees for dry ice and dry ice box will be charged. |
Buffer | Lyophilized from PBS, 6% Trehalose, pH 7.4 |
Troubleshooting and FAQs |
Protein FAQs |
Storage Condition | Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles. |
Shelf Life | The shelf life is related to many factors, storage state, buffer ingredients, storage temperature
and the stability of the protein itself. Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C. |
Lead Time | Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time. Note: Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time. |
Notes | Repeated freezing and thawing is not recommended. Store the protein at -20°C/-80°C upon receiving it, and ensure to avoid repeated freezing and thawing, otherwise, it will affect the protein activity. |
Datasheet & COA | Please contact us to get it. |
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Function |
Catalyzes the transfer of CDP-ribitol to the distal N-acetylgalactosamine 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). This constitutes the first step in the formation of the ribitol 5-phosphate tandem repeat which links the phosphorylated O-mannosyl trisaccharide to the ligand binding moiety composed of repeats of 3-xylosyl-alpha-1,3-glucuronic acid-beta-1. Required for normal location of POMGNT1 in Golgi membranes, and for normal POMGNT1 activity. May interact with and reinforce a large complex encompassing the outside and inside of muscle membranes. Could be involved in brain development (Probable).
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Gene References into Functions |
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Involvement in disease | Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4 (MDDGA4); Muscular dystrophy-dystroglycanopathy congenital without mental retardation B4 (MDDGB4); Muscular dystrophy-dystroglycanopathy limb-girdle C4 (MDDGC4); Cardiomyopathy, dilated 1X (CMD1X) |
Subcellular Location | Golgi apparatus membrane; Single-pass type II membrane protein. Cytoplasm. Nucleus. |
Protein Families | LicD transferase family |
Tissue Specificity | Expressed in the retina (at protein level). Widely expressed with highest expression in brain, heart, pancreas and skeletal muscle. Expressed at similar levels in control fetal and adult brain. Expressed in migrating neurons, including Cajar-Retzius cells |
Database Links |
HGNC: 3622 OMIM: 253800 KEGG: hsa:2218 STRING: 9606.ENSP00000223528 UniGene: Hs.55777 |