Gene Protein Transcript Blast result Transcript specific probe-cluster
Gene information for NPC2 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID10577
Official gene symbolNPC2
Full nameNiemann-Pick disease, type C2
Gene summaryThis 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]
LocationChromosome: 14   Locus: 
Gene position74960084 - 74946643  Map Viewer
OMIM ID601015