Recombinant Human MTM1 Protein (Met1-Phe603), N-His tagged, Animal-free, Carrier-free

• Cat.No.: MTM1-232H
• Product Overview: Recombinant Human MTM1 Protein (Met1-Phe603) with N-His tag was expressed in E. coli and Animal-free as well as Carrier-free.

Specification

• Species: Human
• Source: E.coli
• Tag: His
• ProteinLength: Met1-Phe603
• Description: Myotubularin is a protein that plays a crucial role in cellular processes and is primarily associated with a rare genetic disorder called myotubular myopathy (MTM). This disorder primarily affects skeletal muscles and is characterized by severe muscle weakness and impaired motor function. Myotubularin is an enzyme that regulates the levels of a lipid molecule called phosphatidylinositol 3-phosphate (PI3P) within cells. PI3P is involved in various cellular functions, including membrane trafficking and signaling pathways. Mutations in the gene encoding myotubularin lead to a deficiency or loss of its enzymatic activity, disrupting PI3P metabolism and causing the development of MTM.
• Form: Lyophilized
• Molecular Mass: The protein has a calculated MW of 70.75 kDa.
  The protein migrates as 60 kDa uder reducing condition (SDS-PAGE analysis).
• Endotoxin: < 1 EU/μg of the protein by the LAL method.
• Purity: >95% as determined by SDS-PAGE analysis.
• Storage: This product is stable after storage at:
  -20 centigrade for 12 months in lyophilized state from date of receipt.
  -20 or -80 centigrade for 1 month under sterile conditions after reconstitution.
  Avoid repeated freeze/thaw cycles.
• Reconstitution: It is recommended to reconstitute the lyophilized protein in sterile H2O to a concentration not less than 200 μg/mL and incubate the stock solution for at least 20 min to ensure sufficient re-dissolved.
• Shipping: The product is shipped with polar packs. Upon receipt, store it immediately at -20 centigrade or lower for long term storage.

Gene Information

• Gene Name: MTM1 myotubularin 1 [ Homo sapiens (human) ]
• Official Symbol: MTM1
• Synonyms: MTM1; myotubularin 1; myotubular myopathy 1; myotubularin; CNM; MTMX; XLMTM
• Gene ID: 4534
• mRNA Refseq: NM_000252
• Protein Refseq: NP_000243
• MIM: 300415
• UniProt ID: Q13496