|Western Blot (WB)||1:300-1:2000|
|Tested Species reactivity||Human|
|Host / Isotype||Rabbit|
|Immunogen||A synthetic peptide from the internal region of isoform 1 of human Mucolipin 1|
|Storage buffer||whole serum|
|Storage conditions||Store at 4°C short term. For long term storage, store at -20°C, avoiding freeze/thaw cycles.|
OSM00017W is specific for Mucolipin 1, isoform 1.
Reconstitute in 100ul of sterile water.
Cationic channel probably playing a role in the endocytic pathway and in the control of membrane trafficking of proteins and lipids. Could play a major role in Ca(2+) transport regulating lysosomal exocytosis. Widely expressed in adult and fetal tissues. Defects in MCOLN1 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. MLIV may be due to a defect in sorting and/or transport along the late endocytic pathway. MLIV is found at relatively high frequency among Ashkenazi Jews.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: 2210015I05Rik; MCLN1; Mcoln1; MG-2; MGC7172; ML4; MLIV; MSTP080; Mucolipidin; mucolipidosis type IV protein; Mucolipin 1; Mucolipin-1; TRP-; TRPML1
Gene Aliases: MCOLN1; MG-2; ML4; MLIV; MST080; MSTP080; TRP-ML1; TRPM-L1; TRPML1
UniProt ID: (Human) Q7Z4F7
Entrez Gene ID: (Human) 57192
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