Description
Product Characteristics: 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.,Mammalian Mucolipins,Mucolipin-1, Mucolipidin, Mcoln1, MCLN1, TRPML1, MG-2, ML4, MLIV, TRP-ML1, TRPM-L1, MCOLN1 mucolipin 1
Target Information: This gene encodes a memberof the transient receptor potential (TRP) cation channel gene family. The transmembrane protein localizes to intracellular vesicular membranes including lysosomes, and functions in the late endocytic pathway and in the regulation of lysosomal exocytosis. The channel is permeable to Ca(2+), Fe(2+), Na(+), K(+), and H(+), and is modulated by changes in Ca(2+) concentration. Mutations in this gene result in mucolipidosis type IV. [provided by RefSeq, Oct 2009]