Full name: NPC intracellular cholesterol transporter 1

Gene type: protein coding

RefSeq status: VALIDATED

Also known as: A430089E03Rik; D18Ertd139e; D18Ertd723e; lcsd; nmf164; spm

Summary: Predicted to enable cholesterol binding activity. Involved in several processes, including cholesterol homeostasis; protein glycosylation; and viral entry into host cell. Acts upstream of or within several processes, including adult walking behavior; cellular response to low-density lipoprotein particle stimulus; and cholesterol efflux. Located in several cellular components, including Golgi apparatus; membrane raft; and nuclear envelope. Is expressed in several structures, including genitourinary system; liver; lung; spleen; and stomach. Used to study Niemann-Pick disease and Niemann-Pick disease type C1. Human ortholog(s) of this gene implicated in Niemann-Pick disease type C1. Orthologous to human NPC1 (NPC intracellular cholesterol transporter 1). [provided by Alliance of Genome Resources, Apr 2022]

Expression: Ubiquitous expression in lung adult (RPKM 23.0), placenta adult (RPKM 16.6) and 27 other tissues

Gene size: 47101bp

Exon count: 25