Gene Data From HGNC: https://www.genenames.org/download/statistics-and-files/
Symbol:
NPC1
Name:
NPC intracellular cholesterol transporter 1
Location:
18q11.2
Locus Group:
protein-coding gene
Gene Type:
Protein Coding
Locus Type:
gene with protein product
DrugMatrix Data: https://cebs.niehs.nih.gov/cebs/paper/15670
DrugMatrix Gene Data For: 1 Matched Gene
Gene Name: Niemann-Pick disease, type C1
Symbol:
Description: NPC1 was identified as the gene that when mutated, results in Niemann-Pick C disease. NPC1 encodes a putative integral membrane protein containing motifs consistent with a role in intracellular transport of cholesterol to post-lysosomal destinations.