Title : Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop.

Pub. Date : 2001 Jun

PMID : 11333381






2 Functional Relationships(s)
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Compound Name
Protein Name
Organism
1 The mutations showed a wide distribution to nearly all NPC1 domains, with a cluster (11/32) in a conserved NPC1 cysteine-rich luminal loop. Cysteine NPC intracellular cholesterol transporter 1 Homo sapiens
2 The mutations showed a wide distribution to nearly all NPC1 domains, with a cluster (11/32) in a conserved NPC1 cysteine-rich luminal loop. Cysteine NPC intracellular cholesterol transporter 1 Homo sapiens