Title : Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1.

Pub. Date : 2001 Jun

PMID : 11349231






2 Functional Relationships(s)
Download
Sentence
Compound Name
Protein Name
Organism
1 More than 90% of cases of NPC are due to a defect in Niemann-Pick C1 (NPC1), a late endosomal, integral membrane protein that plays a role in cholesterol transport or homeostasis. Cholesterol NPC intracellular cholesterol transporter 1 Homo sapiens
2 More than 90% of cases of NPC are due to a defect in Niemann-Pick C1 (NPC1), a late endosomal, integral membrane protein that plays a role in cholesterol transport or homeostasis. Cholesterol NPC intracellular cholesterol transporter 1 Homo sapiens