NPC2 NPC intracellular cholesterol transporter 2 [ Homo sapiens (human) ] - Gene - Data resources

10577

NPC2 NPC intracellular cholesterol transporter 2 [ Homo sapiens (human) ]
Source: NCBI Gene (ID 10577)

Symbol: NPC2

Full name: NPC intracellular cholesterol transporter 2

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: EDDM1; HE1

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]

Expression: Ubiquitous expression in lung (RPKM 202.8), thyroid (RPKM 113.6) and 25 other tissues

Orthologs: mouse

Gene size: 13578bp

Exon count: 4