If you have used this antibody, please help fellow researchers by submitting reviews to pAbmAbs and antYbuddY.
Description
Function: 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.Subunit: Forms multimeric complexes.Subcellular location: Cell membrane, Multi-pass membrane protein. Late endosome membrane, Multi-pass membrane protein. Lysosome membrane, Multi-pass membrane protein.Tissue specificity: Widely expressed in adult and fetal tissues. DISEASE: 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.Miscellaneous: Channel function is transiently modulated by changes in Ca(2+), and inhibited by a reduction of pH, pH changes modify the aggregation state of unitary channels Also known as:Mucolipin-1, Mucolipidin,Mucolipin 1, Mcoln1, MCLN1, TRPML1, MG-2, ML4, MLIV, TRP-ML1, TRPM-L1.
Immunogen
A synthetic peptide from the n-terminal region of mouse Mucolipin 1 conjugated to an immunogenic carrier protein was used as the antigen. The peptide is homologous in human, monkey and rat.