Gene Symbol | NPC2 |
Entrez Gene ID | 10577 |
Full Name | NPC intracellular cholesterol transporter 2 |
Synonyms | EDDM1,HE1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Niemann-pick disease, type C2, 607625 (3) |