MCOLN1 (mucolipin 1)

Polyclonal antibody produced in rabbits immunized with a synthetic peptide corresponding to a region of Human MCOLN1.

Membrane Protein

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.

Cell membrane; Multi-pass membrane protein. Late endosome membrane; Multi-pass membrane protein. Lysosome membrane; Multi-pass membrane protein.

Defects in MCOLN1 are the cause of mucolipidosis type IV (MLIV) [MIM:252650]; 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.

Belongs to the transient receptor family. Polycystin subfamily. LaPlante. J. M. . et al. . (2004) Biochem. Biophys. Res. Commun. 322 (4). 1384-1391.