Difference between revisions of "YDL046W"

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Revision as of 08:20, 23 January 2007

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Systematic name YDL046W
Gene name NPC2
Aliases
Feature type ORF, Verified
Coordinates Chr IV:371237..371758
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Description of YDL046W: Functional homolog of human NPC2/He1, which is a cholesterol-binding protein whose deficiency causes Niemann-Pick type C2 disease involving retention of cholesterol in lysosomes[1]



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References

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  1. Berger AC, et al. (2005) Saccharomyces cerevisiae Npc2p is a functionally conserved homologue of the human Niemann-Pick disease type C 2 protein, hNPC2. Eukaryot Cell 4(11):1851-62 SGD PMID 16278452

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