Protein Name | NPC intracellular cholesterol transporter 2 |
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Organism | Homo sapiens |
Gene ID | 10577 |
Gene Symbol | NPC2 |
UniProt | P61916 (NPC2_HUMAN), A0A024R6C0 (A0A024R6C0_HUMAN) |
Relationships |
Total Number of functionally related compound(s) :
99
Total Number of Articles : 182 |
Description |
NPC intracellular cholesterol transporter 2 |
Gene Summary |
This gene encodes a protein containing a lipid recognition domain. The encoded protein may function in regulating the transport of cholesterol through the late endosomal/lysosomal system. Mutations in this gene have been associated with Niemann-Pick disease, type C2 and frontal lobe atrophy. [provided by RefSeq, Jul 2008] |
synonyms |
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Properties | |