disease:Defects in NPC2 are the cause of Niemann-Pick disease type C2 (NPC2) [MIM:607625]. NPC2 is a fatal autosomal recessive hereditary disease characterized by the accumulation of low-density lipoprotein-derived cholesterol in lysosomes.,function:May be involved in the regulation of the lipid composition of sperm membranes during the maturation in the epididymis.,similarity:Belongs to the NPC2 family.,tissue specificity:Epididymis.,
Secreted . Endoplasmic reticulum . Lysosome . Interaction with cell-surface M6PR mediates endocytosis and targeting to lysosomes. .
Detected in gallbladder bile (PubMed:21315718). Detected in fibroblasts, kidney, liver, spleen, small intestine, placenta and testis (at protein level) (PubMed:11125141). Epididymis.
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