Gene: [18q11/NPC1] intracellular cholesterol transport regulator?; Niemann-Pick disease, type C1 (major form); [NPC ]
|
FUN |
Transfection of NPC fibroblasts with wildtype NPC1 cDNA resulted in correction of their excessive lysosomal storage of LDL cholesterol, thereby defining the critical role of NPC1 in regulation of intracellular cholesterol trafficking (Carstea-1997)." |
|
EVO |
The 1,278-amino acid NPC1 protein has sequence similarity to the morphogen receptor 'patched' (GEM:09q223/PTCH), which is mutant in the basal cell nevus syndrome, and to the putative sterol-sensing regions of SREBP cleavage-activating protein (see GEM:17p112/SREBF1) and 3-hydroxy-3-methylglutaryl coenzyme A reductase (GEM:05q1/HMGCR)." |
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CAG |
On the minor form of Niemann-Pick disease (type C2) see GEM:00.0/NPC2. |
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REF |
LOC,MUT,SEQ,COD "Carstea ED &: Science, 277, N5323, 228-231, 1997 LIN,PAT "Carstea ED &: AJHG, 55, A182-182, 1994 LIN,PAT "Carstea ED &: PNAS, 90, 2002-2004, 1993 LIN,LOC "Kurimasa A &: Hum Genet, 92, 157-162, 1993 HET,PAT "Steinberg SJ &: J Med Genet, 31, 317-320, 1994 LIN,LOC,HET "Vanier MT &: AJHG, 58, 118-125, 1996 HET,PAT "Vanier MT &: Dev Neurosci, 13, N4-5, 307-314, 1991 |
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KEY |
lip, ats, mtbd |
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CLA |
coding, basic |
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LOC |
18 q11 |
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MIM |
MIM: 257220 |
|
SYN |
NPC |
