NCIt synonyms : Tissue-Specific Secretory Protein Gene; HE1; NP-C2; NPC Intracellular Cholesterol Transporter 2 wt Allele; Niemann-Pick Disease, Type C2 Gene; Epididymal Protein 1 Gene; Epididymis Secretory Sperm Binding Protein Gene; EDDM1;
NCIt definition : Human NPC2 wild-type allele is located in the vicinity of 14q24.3 and is approximately
18 kb in length. This allele, which encodes NPC intracellular cholesterol transporter
2 protein, plays a role in cholesterol transport and homeostasis. Mutation of the
gene is associated with Niemann-pick disease type C2.;
OMIM relation