Recombinant Human Fukutin (FKTN) | CSB-CF008709HU

Recombinant Human Fukutin (FKTN) | CSB-CF008709HU | Cusabio

Alternative Name(s): Fukutin(EC 2.4.2.-)(Fukuyama-type congenital muscular dystrophy protein)(Ribitol-5-phosphate transferase)

Gene Names: FKTN

Research Areas: Biochemicals

Organism: Homo sapiens (Human)

AA Sequence: MSRINKNVVLALLTLTSSAFLLFQLYYYKHYLSTKNGAGLSKSKGSRIGFDSTQWRAVKKFIMLTSNQNVPVFLIDPLILELINKNFEQVKNTSHGSTSQCKFFCVPRDFTAFALQYHLWKNEEGWFRIAENMGFQCLKIESKDPRLDGIDSLSGTEIPLHYICKLATHAIHLVVFHERSGNYLWHGHLRLKEHIDRKFVPFRKLQFGRYPGAFDRPELQQVTVDGLEVLIPKDPMHFVEEVPHSRFIECRYKEARAFFQQYLDDNTVEAVAFRKSAKELLQLAAKTLNKLGVPFWLSSGTCLGWYRQCNIIPYSKDVDLGIFIQDYKSDIILAFQDAGLPLKHKFGKVEDSLELSFQGKDDVKLDVFFFYEETDHMWNGGTQAKTGKKFKYLFPKFTLCWTEFVDMKVHVPCETLEYIEANYGKTWKIPVKTWDWKRSPPNVQPNGIWPISEWDEVIQLY

Source: in vitro E.coli expression system

Tag Info: N-terminal 10xHis-tagged

Expression Region: 1-461aa

Sequence Info: Full Length

MW: 56.5 kDa

Purity: Greater than 85% as determined by SDS-PAGE.

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:17034757, PubMed:25279699, PubMed:26923585, PubMed:29477842). 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 (PubMed:17034757, PubMed:25279699, PubMed:26923585, PubMed:29477842). Required for normal location of POMGNT1 in Golgi membranes, and for normal POMGNT1 activity (PubMed:17034757). May interact with and reinforce a large complex encompassing the outside and inside of muscle membranes (PubMed:25279699). Could be involved in brain development (Probable).

Reference: "Identification of a Post-translational Modification with Ribitol-Phosphate and Its Defect in Muscular Dystrophy." Kanagawa M., Kobayashi K., Tajiri M., Manya H., Kuga A., Yamaguchi Y., Akasaka-Manya K., Furukawa J.I., Mizuno M., Kawakami H., Shinohara Y., Wada Y., Endo T., Toda T. Cell Rep. 14:2209-2223(2016)

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:

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.

Uniprot ID: O75072

HGNC Database Link: N/A

UniGene Database Link: N/A

KEGG Database Link: N/A

STRING Database Link: N/A

OMIM Database Link: N/A