| 单词 |
npc2 |
| 释义 |
NPC2
NPC2 A gene on chromosome 14q24.3 that encodes a protein with a lipid recognition domain, which is thought to transport cholesterol through the endosomal/liposomal system.
Molecular pathology
NPC2 mutations are linked to Niemann-Pick disease type C2 and frontal lobe atrophy. |
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