Recombinant Human Mucolipin 1 GST (N-Term) Protein

12.5% SDS-PAGE Stained with Coomassie Blue.

Product Discontinued

Recombinant Human Mucolipin 1 GST (N-Term) Protein Summary

• Description: A recombinant protein with GST tag at N-terminal corresponding to the amino acids 1-580 of Human MCOLN1 full-length ORF
  
  

  Source: Wheat Germ (in vitro)

  Amino Acid Sequence: MTAPAGPRGSETERLLTPNPGYGTQAGPSPAPPTPPEEEDLRRRLKYFFMSPCDKFRAKGRKPCKLMLQVVKILVVTVQLILFGLSNQLAVTFREENTIAFRHLFLLGYSDGADDTFAAYTREQLYQAIFHAVDQYLALPDVSLGRYAYVRGGGDPWTNGSGLALCQRYYHRGHVDPANDTFDIDPMVVTDCIQVDPPERPPPPPSDDLTLLESSSSYKNLTLKFHKLVNVTIHFRLKTINLQSLINNEIPDCYTFSVLITFDNKAHSGRIPISLETQAHIQECKHPSVFQHGDNSFRLLFDVVVILTCSLSFLLCARSLLRGFLLQNEFVGFMWRQRGRVISLWERLEFVNGWYILLVTSDVLTISGTIMKIGIEAKNLASYDVCSILLGTSTLLVWVGVIRYLTFFHNYNILIATLRVALPSVMRFCCCVAVIYLGYCFCGWIVLGPYHVKFRSLSMVSECLFSLINGDDMFVTFAAMQAQQGRSSLVWLFSQLYLYSFISLFIYMVLSLFIALITGAYDTIKHPGGAGAEESELQAYIAQCQDSPTSGKFRRGSGSACSLLCCCGRDPSEEHSLLVN

• Preparation Method: in vitro wheat germ expression system
• Details of Functionality: This protein was produced in an in vitro wheat germ expression system that should preserve correct conformational folding that is necessary for biological function. While it is possible that this protein could display some level of activity, the functionality of this protein has not been explicitly measured or validated.
• Source: Wheat germ
• Protein/Peptide Type: Full Length Recombinant Protein
• Gene: MCOLN1
• Purity: >80% by SDS-PAGE and Coomassie blue staining

Applications/Dilutions

• Dilutions:
  • ELISA
  • Immunoaffinity Purification
  • Protein Array
  • Western Blot
• Theoretical MW: 91.4 kDa.
  Disclaimer note: The observed molecular weight of the protein may vary from the listed predicted molecular weight due to post translational modifications, post translation cleavages, relative charges, and other experimental factors.

Packaging, Storage & Formulations

• Storage: Store at -80C. Avoid freeze-thaw cycles.
• Buffer: 50 mM Tris-HCl, 10 mM reduced Glutathione, pH 8.0 in the elution buffer.
• Preservative: No Preservative
• Purity: >80% by SDS-PAGE and Coomassie blue staining

Notes

This product is produced by and distributed for Abnova, a company based in Taiwan.

Alternate Names for Recombinant Human Mucolipin 1 GST (N-Term) Protein

• MCOLN1
• MG-2
• ML1
• ML4
• ML4TRP-ML1
• MLIV
• MST080
• MSTP080
• Mucolipidin
• mucolipidosis type IV protein
• Mucolipin 1
• mucolipin-1
• TRPML1
• TRP-ML1
• TRPM-L1

Background

Mucolipin-1 (MCOLN1) is a 65kDa member of the TRPML channel family, which is a subgroup of the large protein family of TRP ion channels. Mucolipin 1 is thought to channel iron ions across the endosome/lysosome membrane into the cell, so defective MCOLN1 may cause cellular iron deficiency.

Defects in MCOLN1 are known to cause mucolipidosis type IV (MLIV), also known as sialolipidosis. MLIV is an autosomal recessive lysosomal storage disorder characterized by severe psychomotor retardation and ophthalmologic abnormalities, including corneal opacity, retinal degeneration and strabismus. Storage bodies of lipids and water-soluble substances are seen by electron microscopy in almost every cell type of the patients. Most patients are unable to speak or walk independently and reach a maximal developmental level of 1-2 years. All patients have constitutive achlorhydia associated with a secondary elevation of serum gastrin levels.

Limitations

This product is for research use only and is not approved for use in humans or in clinical diagnosis. Peptides and proteins are guaranteed for 3 months from date of receipt.

Bioinformatics

• Gene Symbol: MCOLN1