Size:100ug. Other sizes are also available. For further information, please contact us.
Research Areas:Biochemicals
Uniprot ID:Q8R507
Gene Names:Fktn
Organism:Mus musculus (Mouse)
AA Sequence:KHYLSARNGPGSSKSKGNRVGFDSTQWRAVKKFIMLTSSQNVPVFLIDPWILESINKNFEQVKNASQGPASECRFFCVPRDFTAFALQYHLWKNEDGWFRIAENMGFQCLKTESKDPRLDGIDSLSGTEIPLHYVCKLTTHAIHLVVFHERSGNYLWHGHLRLKGHMDRKFVPFRKLQFGRYPGAFDRPELQQVTVDGLDMLIPKDPGRFLEEVPHSRFIECRYKEARAFLQQYIDDNTVDAMVFRKRAKELLQLAAKTLKDLGVPFWLSSGTCLGWYRQCGIIPYSKDVDLGIFIQDYKPDIILAFQEAGLPLKHKFGKVEDSLELSFQGKNDVKLDIFFFYEEADHLWNGGTQARTGKKFKYLFPKFTLCWTEFVDIKVHVPCETVDYIEANYGKTWKIPIKTWDWKSSPPNVQPNGIWPISEWDEVIQLY
Expression Region:29-461aa
Sequence Info:Partial
Source:E.coli
Tag Info:N-terminal 10xHis-tagged and C-terminal Myc-tagged
MW:57.8 kDa
Alternative Name(s):Fukuyama-type congenital muscular dystrophy protein Ribitol-5-phosphate transferase
Relevance: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) (PubMed:12471058). 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 (By similarity). Required for normal location of POMGNT1 in Golgi membranes, and for normal POMGNT1 activity (PubMed:19017726). May interact with and reinforce a large complex encompassing the outside and inside of muscle membranes (PubMed:19017726, PubMed:22922256). Could be involved in brain development (Probable).
Reference:"Expression of dystroglycan, fukutin and POMGnT1 during mouse cerebellar development." Henion T.R., Qu Q., Smith F.I. Brain Res. Mol. Brain Res. 112:177-181(2003)
Purity:Greater than 85% as determined by SDS-PAGE.
Form:Liquid or Lyophilized powder
Buffer:If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol. If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, pH 8.0.
Reconstitution:We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20?/-80?. Our default final concentration of glycerol is 50%. Customers could use it as reference.
Storage: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?/-80?. The shelf life of lyophilized form is 12 months at -20?/-80?.
Notes:Repeated freezing and thawing is not recommended. Store working aliquots at 4? for up to one week.
Function:
Involvement in disease:
Subcellular Location:
Protein Families:
Tissue Specificity:
Paythway:
HGNC Database Link:
UniGene Database Link:
KEGG Database Link:
STRING Database Link:
OMIM Database Link:
Lead Time Guidance:3-7 business days