Name: Recombinant Human Fukutin(FKTN)-VLPs
Brand: CUSABIO
SKU: CSB-MP008709HU

Product Details

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.

Target Background

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).
Gene References into Functions	The results suggest that fukutin and FKRP not only participate in the synthesis of O-mannosyl glycans added to alpha-dystroglycan in the endoplasmic reticulum and Golgi complex, but that they could also play a role, that remains to be established, in the nucleus of retinal neurons. PMID: 29416295 ISPD and FKTN are essential for the incorporation of ribitol into alpha-dystroglycan. PMID: 27194101 the mutated fukutin protein was smaller than the normal protein, reflecting the truncation of fukutin due to a premature stop codon. Immunostaining analysis showed a decrease in the signal for the glycosylated form of alpha-dystroglycan. These findings indicated that this mutation is the second most prevalent loss-of-function mutation in Japanese Fukuyama congenital muscular dystrophy patients. PMID: 28680109 Fukutin, FKRP, and TMEM5 form a complex while maintaining each of their enzyme activities. Data showed that endogenous fukutin and FKRP enzyme activities coexist with TMEM5 enzyme activity, and suggest the possibility that formation of this enzyme complex may contribute to specific and prompt biosynthesis of glycans that are required for dystroglycan function. PMID: 29477842 Fukutin and fukutin-related protein are sequentially acting Rbo5P transferases that use cytidine diphosphate ribitol. PMID: 26923585 Fukutin role in in tumor progression in gastric cancer PMID: 26223471 Mutation in the fukutin gene is associated with Fukuyama congenital muscular dystrophy and microcephaly. PMID: 24530477 four new non-Japanese patients with FKTN mutations and congenital muscular dystrophy PMID: 20961758 FKTN mutations are the most common genetic cause of congenital muscular dystrophies with defective alpha-dystroglycan glycosylation in Korea PMID: 20620061 In Fukuyama congenital muscular dystrophy (FCMD) cases, expression of fukutin looked decreased. PMID: 12172906 Fukutin is associated with Walker-Warburg syndrome. PMID: 14627679 Data suggest that fukutin and fukutin-related protein (FKRP) may be involved at different steps in O-mannosylglycan synthesis of alpha-dystroglycan, and FKRP is most likely involved in the initial step in this synthesis. PMID: 15213246 Fukutin seems to bind to both the hypoglycosylated and fully glycosylated form of alpha-dystroglycan, and seems bind to the core area rather than the sugar chain of alpha-dystroglycan PMID: 17005282 Walker-Warburg syndrome carries a homozygous-single nucleotide insertion that produces a frameshift, or 2 mutations, a point mutation that produces an amino acid substitution, & deletion in 3'UTR that affects the polyadenylation signal of fukutin gene. PMID: 18177472 FCMD mutations are a more common cause of Walker-Warburg syndrome outside of the Middle East. PMID: 18752264 The homozygous nonsense mutations within the coding region identified in Turkish patients are predicted to cause a total loss of fukutin activity and are likely to produce a more severe phenotype which closely resembles WWS. PMID: 18834683 The compound heterozygous FKTN mutation was a rare cause of dilated cardiomyopathy. Hyper-CKemia might be indicative of FKTN mutation in dilated cardiomyopathy. PMID: 19015585 Outside Japan, fukutinopathies are associated with a large spectrum of phenotypes from isolated hyperCKaemia to severe CMD, showing a clear overlap with that of FKRP. PMID: 19179078 an identical homozygous c.1167insA mutation in the FKTN gene on a common haplotype in four families and identified 2/299 (0.7%) carriers for the c.1167insA mutation among normal American Ashkenazi Jewish adults PMID: 19266496 Our results provide further evidence for ethnic and allelic heterogeneity and the presence of milder phenotypes in FKTN-dystroglycanopathy despite a substantial degree of alpha-dystroglycan hypoglycosylation in skeletal muscle. PMID: 19342235 We found fukutin gene mutations in a 4.5-year-old Italian patient, with reduced alpha-dystroglycan expression, dystrophic features on muscle biopsy, hypotonia since birth, mild myopathy, but no brain involvement. PMID: 19396839 Show More Hide All
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

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Recombinant Human Fukutin(FKTN)-VLPs

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Code	CSB-MP008709HU
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