Mucolipin 1 Blocking Peptide Summary
| Description |
A peptide to MCOLN1.
|
| Protein/Peptide Type |
Blocking Peptide
|
| Gene |
MCOLN1
|
Packaging, Storage & Formulations
| Storage |
Store at -80C. Avoid freeze-thaw cycles.
|
| Buffer |
Peptide dissolved in dH2O. Contains no BSA.
|
| Preservative |
No Preservative
|
| Concentration |
1.0 mg/ml
|
Alternate Names for Mucolipin 1 Blocking Peptide
- MG-2
- ML4TRP-ML1
- MLIV
- MST080
- MSTP080
- mucolipidin
- mucolipidosis type IV protein
- mucolipin 1
- mucolipin-1
- TRPML1
- TRP-ML1
- TRPM-L1
Background
Defects in Mucolipin-1 are the cause of 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.