NPC1 rabbit pAb

disease:Defects in NPC1 are the cause of Niemann-Pick disease type C1 (NPC1) [MIM:257220]. NPC1 is an autosomal recessive lipid storage disorder, which affects particularly the brain, liver and spleen, and which is characterized by lysosomal accumulation of low density lipoprotein derived cholesterol. Clinical features include variable hepatosplenomegaly and severe progressive neurological dysfunction such as ataxia, dystonia and dementia. The age of onset can vary from infancy to late adulthood.,disease:Defects in NPC1 are the cause of Niemann-Pick disease type D (NPD) [MIM:257220]; also known as Niemann-Pick disease without sphingomyelinase deficiency, or Nova Scotian type. Because of evidence from biochemical changes, lack of complementation, and linkage mapping to the same chromosome site, NPD and NPC1 are considered to be allelic disorders.,domain:A cysteine-rich N-terminal domain and a C-terminal domain containing a di-leucine motif necessary for lysosomal targeting are critical for mobilization of cholesterol from lysosomes.,function:Involved in the intracellular trafficking of cholesterol. May play a role in vesicular trafficking in glia, a process that may be crucial for maintaining the structural and functional integrity of nerve terminals.,PTM:Glycosylated.,similarity:Belongs to the patched family.,similarity:Contains 1 SSD (sterol-sensing) domain.,