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Reconstitution: 25 µL, 50 µL or 0.2 mL double distilled water (DDW), depending on the sample size. The antibody ships as a lyophilized powder at room temperature. Upon arrival, it should be stored at -20C. The reconstituted solution can be stored at 4C for up to 1 week. For longer periods, small aliquots should be stored at -20C. Avoid multiple freezing and thawing. Centrifuge all antibody preparations before use (10000 x g 5 min).
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: MCLN1; MCOLN1 mucolipin 1; MG-2; MGC7172; ML1; Mucolipidin; mucolipidosis type IV protein; Mucolipin-1; Transient receptor potential channel mucolipin 1; Transient receptor potential-mucolipin 1; TRPML1
Gene Aliases: 2210015I05Rik; MCOLN1; MG-2; ML4; MLIV; MST080; MSTP080; mucolipidin; TRP-ML1; TRPM-L1; TRPML1
UniProt ID: (Human) Q9GZU1, (Mouse) Q99J21
Entrez Gene ID: (Human) 57192, (Mouse) 94178, (Rat) 288371
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