Recombinant Human MYOF Over-expression cell lysate

• Cat.No.: MYOF-12HCL
• Product Overview: Human MYOF Over-expression cell lysate, transcript variant 1, was derived from Human HEK293T cell line.

Specification

• Species: Human
• Source: HEK293
• Tag: DDK&Myc
• Description: Mutations in dysferlin, a protein associated with the plasma membrane, can cause muscle weakness that affects both proximal and distal muscles. The protein encoded by this gene is a type II membrane protein that is structurally similar to dysferlin. It is a member of the ferlin family and associates with both plasma and nuclear membranes. The protein contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. Two transcript variants encoding different isoforms have been found for this gene. Other possible variants have been detected, but their full-length nature has not been determined.
• Form: 25mM Tris-HCl pH7.6, 150mM NaCl, 1% NP-40, 1mM EDTA, 1xProteinase inhibitor cocktail mix (Sigma), 1mM PMSF and 1mM Na3VO4
• Molecular Mass: 234.5 kDa
• Usage: 1 vial of 100 µg gene specific transient over-expression cell lysate in RIPA buffer
  1 vial of 100 µg empty vector transfected control cell lysate in RIPA buffer
  1 vial of 250ul 2xSDS Sample Buffer (4% SDS, 125mM Tris-HCl pH6.8, 10% Glycerol, 0.002% Bromphenol blue, 100mM DTT)
• Storage: Upon receiving, store the sample at -20 centigrade. Lysate samples are stable for 12 months from date of receipt when stored at -20 centigrade. Avoid repeated freeze-thaw cycles.
  Lysate samples can be diluted with 2xSDS Sample Buffer provided. After dilution, the protein sample should be aliquoted and stored at -20 centigrade for long term storage. Prior to SDS-PAGE fractionation, boil the lysate for 5 minutes.

Gene Information

• Gene Name: MYOF myoferlin [ Homo sapiens ]
• Official Symbol: MYOF
• Synonyms: FER1L3; fer-1-like 3, myoferlin; fer-1-like family member 3; fer-1-like protein 3
• Gene ID: 26509
• mRNA Refseq: NM_013451
• Protein Refseq: NP_038479
• MIM: 604603
• UniProt ID: Q9NZM1
• Chromosome Location: 10q23.33
• Pathway: Aryl Hydrocarbon Receptor Pathway, organism-specific biosystem; Hepatitis C and Hepatocellular Carcinoma, organism-specific biosystem
• Function: phospholipid binding; phospholipid binding; protein binding