<unk>  has an autosomal recessive pattern of inheritance. Mucolipin1 is thought to be localized in endosomes. An important property of mucolipin1 is that decreasing pH (acidification) results in deactivation of the protein, likely through an assembly defect. There are at least 29 known mutations in MCOLN1, located throughout the gene. Many of the known mutations result in no expression of mucolipin1. Milder mutations, such as ΔF408 and V446L, produce a dysfunctioning form of the cation channel. Mutations that alter only the C-terminal of the protein also result in a mild phenotype of the disorder, usually sparing the brain.<unk>  causes affected cells to accumulate auto-fluorescent vacuoles considered to be aberrant lysosomes. Several evidences exist for a defect in both exocytosis and endocytosis. There are conflicting indications of abnormal lysosomal pH in<unk> . It is not yet clear why these abnormalities will cause incomplete development of the brain, achlorhydria, and failure in the maintenance of retinal tissue.
Mucolipidosis type IV
GM2-gangliosidosis, AB variant
GM1 gangliosidoses
Mucopolysaccharidosis type I
GM2 gangliosidoses
Glycogen storage disease type VI
Glycogen storage disease type V
Sphingolipidoses