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MCOLN1, also named as MLIV, ML4, MG-2 and Mucolipidin, belongs to the transient receptor (TC 1.A.4) family, Polycystin subfamily and MCOLN1 sub-subfamily. It is playing a role in the endocytic pathway and in the control of membrane trafficking of proteins and lipids. MCOLN1 may play a major role in Ca2+ transport regulating lysosomal exocytosis. It is an autosomal recessive lysosomal storage disorder characterized by severe psychomotor retardation and ophthalmologic abnormalities, including corneal opacity, retinal degeneration, and strabismus.