Analytical Data
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Gene name
FCMD
- Application
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Alternative Names
FKTN; FCMD; Fukutin; Fukuyama-type congenital muscular dystrophy protein; Ribitol-5-phosphate transferase
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Species
Human
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Source
E. coli
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Tag
GST-tag at N-terminal
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Purity
Greater than 90% as determined by SDS-PAGE.
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Uniprot
O75072
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Expression Region
1-461aa
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AA Sequence
MSRINKNVVLALLTLTSSAFLLFQLYYYKHYLSTKNGAGLSKSKGSRIGFDSTQWRAVKKFIMLTSNQNVPVFLIDPLILELINKNFEQVKNTSHGSTSQCKFFCVPRDFTAFALQYHLWKNEEGWFRIAENMGFQCLKIESKDPRLDGIDSLSGTEIPLHYICKLATHAIHLVVFHERSGNYLWHGHLRLKEHIDRKFVPFRKLQFGRYPGAFDRPELQQVTVDGLEVLIPKDPMHFVEEVPHSRFIECRYKEARAFFQQYLDDNTVEAVAFRKSAKELLQLAAKTLNKLGVPFWLSSGTCLGWYRQCNIIPYSKDVDLGIFIQDYKSDIILAFQDAGLPLKHKFGKVEDSLELSFQGKDDVKLDVFFFYEETDHMWNGGTQAKTGKKFKYLFPKFTLCWTEFVDMKVHVPCETLEYIEANYGKTWKIPVKTWDWKRSPPNVQPNGIWPISEWDEVIQLY
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Molecular Weight
56.5 kDa
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Endotoxin
< 1.0 EU per μg protein as determined by the LAL method.
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Form
Freeze-dried powder
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Buffer formulation
PBS, pH7.4, containing 0.01% SKL, 1mM DTT, 5% Trehalose and Proclin300.
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Reconstitution
Reconstitute in ddH2O to a concentration of 0.1-0.5 mg/mL. Do not vortex.
- Customization
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Stability Test
The thermal stability is described by the loss rate. The loss rate was determined by accelerated thermal degradation test, that is, incubate the protein at 37℃ for 48h, and no obvious degradation and precipitation were observed. The loss rate isless than 8% within the expiration date under appropriate storage condition.
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Storage & Shelf Life
Samples are stable for up to twelve months from date of receipt at -20℃ to -80℃. Store it under sterile conditions at -20℃ to -80℃. It is recommended that the protein be aliquoted for optimal storage. Avoid repeated freeze-thaw cycles.
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Shipping
In general, recombinant proteins are supplied as lyophilized powder and shipped at ambient temperature. For bulk packages, the proteins are provided as frozen liquid and shipped with blue ice, unless otherwise requested by the customer.
Quality inspection process
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Protein Description
FCMD (Fukuyama congenital muscular dystrophy) is a rare genetic disorder characterized by muscle weakness, brain malformations, and intellectual disabilities, primarily caused by mutations in the FKTN gene. The FKTN gene encodes the protein fukutin, which is involved in the glycosylation of alpha-dystroglycan, a critical component in the muscle membrane that interacts with extracellular matrix components. Defects in this process lead to the compromised structural integrity of muscle fibers and the nervous system. Research into FCMD and the FKTN protein has gained momentum as scientists seek to understand the underlying molecular mechanisms of the disease and explore potential therapeutic strategies. Recombination of the FKTN protein can provide insights into its structure and function, facilitating the development of targeted therapies that could potentially restore its activity or compensate for its loss. Additionally, studying FCMD-recombinant proteins aids in the identification of biomarkers and the evaluation of therapeutic interventions, thereby paving the way for promising clinical applications in treating FCMD and related muscular dystrophies. As the understanding of FCMD deepens, there is hope for improved diagnostic tools and novel treatment modalities, highlighting the importance of continued research in this field.
