NPC2 wt Allele

**Semantic type:** Gene or Genome

**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.

**Synonyms:** - EDDM1 - Epididymal Protein 1 Gene - Epididymis Secretory Sperm Binding Protein Gene - HE1 - NP-C2 - NPC Intracellular Cholesterol Transporter 2 wt Allele - Niemann-Pick Disease, Type C2 Gene - Tissue-Specific Secretory Protein Gene