abnormal cellular cholesterol metabolism Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description impaired regulation of cellular cholesterol levels (Mammalian Phenotype Ontology, MP_0003191)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0003191
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Genes

14 gene mutations causing the abnormal cellular cholesterol metabolism phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
ABCG1 ATP-binding cassette, sub-family G (WHITE), member 1
APOA1 apolipoprotein A-I
APOF apolipoprotein F
CAV1 caveolin 1, caveolae protein, 22kDa
HP haptoglobin
NCEH1 neutral cholesterol ester hydrolase 1
NPC1 Niemann-Pick disease, type C1
NR1H2 nuclear receptor subfamily 1, group H, member 2
NR1H3 nuclear receptor subfamily 1, group H, member 3
P2RY13 purinergic receptor P2Y, G-protein coupled, 13
RXRB retinoid X receptor, beta
SPTLC2 serine palmitoyltransferase, long chain base subunit 2