Npc2 NPC intracellular cholesterol transporter 2 [ Mus musculus (house mouse) ]
Source: NCBI Gene (ID 67963)
Source: NCBI Gene (ID 67963)
Symbol: Npc2
Full name: NPC intracellular cholesterol transporter 2
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Also known as: 2700012J19Rik; HE1
Summary: Enables cholesterol binding activity. Involved in cholesterol efflux and intracellular cholesterol transport. Located in lysosome. Is expressed in nervous system; respiratory system; and stomach. Used to study Niemann-Pick disease. Human ortholog(s) of this gene implicated in Niemann-Pick disease and Niemann-Pick disease type C2. Orthologous to human NPC2 (NPC intracellular cholesterol transporter 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in genital fat pad adult (RPKM 400.1), lung adult (RPKM 212.6) and 17 other tissues
Orthologs: human
Gene size: 18554bp
Exon count: 4