Epididymal secretory protein E1
Group of transport proteins in vertebrates / From Wikipedia, the free encyclopedia
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The epididymal secretory protein E1, also known as NPC2 (Niemann-Pick intracellular cholesterol transporter 2), is one of two main lysosomal transport proteins that assist in the regulation of cellular cholesterol by exportation of LDL-derived cholesterol from lysosomes.[1][2] Lysosomes have digestive enzymes that allow it to break down LDL particles to LDL-derived cholesterol once the LDL particle is engulfed into the cell via receptor mediated endocytosis.
Niemann-Pick disease, type C2 | |||||||
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Identifiers | |||||||
Symbol | NPC2 | ||||||
NCBI gene | 10577 | ||||||
HGNC | 14537 | ||||||
OMIM | 601015 | ||||||
RefSeq | NM_006432 | ||||||
UniProt | P61916 | ||||||
Other data | |||||||
Locus | Chr. 14 q24.3 | ||||||
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NPC2 works cooperatively with the NPC1 protein to facilitate the exportation of LDL-derived cholesterol out of the lysosome to regulate the concentrations of lipids and cholesterol in the body.[1] Epididymal secretory protein E1 is a protein associated with Niemann-Pick disease, type C, which is one of the 3 types of the Niemann-Pick diseases (Type A, B, and C).[3] This disease can lead to an over accumulation of cholesterol and lipids in different types of tissues, including the brain.[3] [4] It is caused by a mutation in the NPC2 gene that impairs the body's ability to transport lipids or cholesterol intracellularly.[4]