NPC2, Official Symbol NPC2provided by HGNC Official Full Name NPC intracellular cholesterol transporter 2provided by HGNC Primary source HGNC:HGNC:14537 See related Ensembl:ENSG00000119655 MIM:601015; AllianceGenome:HGNC:14537 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HE1; EDDM1 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 See more Orthologs mouse all