The gene NPC2 (Niemann-Pick disease type C2) is mapped to human chromosome 14q24.3. It contains only five exons spanning a length of 13.5kb and encodes a soluble lysosomal protein of 132 amino acids.
Synonyms: Anti-Epididymal secretory protein E1 precursor antibody produced in rabbit; Anti-Niemann-Pick disease type C2 protein antibody produced in rabbit; Anti-hE1 antibody produced in rabbit
Storage: -20C
Application: Anti-NPC2 antibody produced in rabbit has been used in western blotting and immunohistochemistry.
Biochem Physiol Actions: Niemann-Pick type C is a lysosomal storage disease (fatal autosomal recessive disorder) caused due to mutations in NPC1 and NPC2 genes. It is an inherited disorder in which cholesterol and other lipids accumulate in the late endosomal/lysosomal compartment. The disease is characterized by hepatosplenomegaly and progressive neurological deterioration. NPC2 protein is one of the most abundant components of the epididymal fluid and contains a functional cholesterol-binding site that can transfer cholesterol between membranes. It has a key role for cellular cholesterol regulation in the innate immune response. The protein can be involved in regulation of cholesterol levels in spermatozoa during epididymal maturation. NPC2 acts as a specific regulator of arachidonic acid (AA) metabolism and inflammation and may help in the treatment of inflammatory diseases characterized by the presence of activated fibroblasts.
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