NPC1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human NPC1 wild-type allele is located in the vicinity of 18q11.2 and is approximately 80 kb in length. This allele, which encodes NPC intracellular cholesterol transporter 1 protein, is involved in intracellular cholesterol transport. Mutations in the gene are associated with Niemann-Pick disease types C1 and D.

**Synonyms:** - NPC - NPC Intracellular Cholesterol Transporter 1 wt Allele - Niemann-Pick Disease, Type C1 Gene - POGZ - SLC65A1