Title : Niemann-Pick type C1 I1061T mutant encodes a functional protein that is selected for endoplasmic reticulum-associated degradation due to protein misfolding.

Pub. Date : 2008 Mar 28

PMID : 18216017






1 Functional Relationships(s)
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1 The most prevalent mutation, NPC1(I1061T), is predicted to lie within the cysteine-rich luminal domain and is associated with the classic juvenile-onset phenotype of Niemann-Pick type C disease. Cysteine NPC intracellular cholesterol transporter 1 Homo sapiens