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. 2018 Apr 27;18:478. doi: 10.1186/s12885-018-4373-y

Table 2.

Overview of genes related to cholesterol synthesis assessed for differential expression

Gene symbol Alternative symbol Gene name Gene function
ACAT1 acetyl-CoA acetyltransferase 1 Synthesis
ACAT2 acetyl-CoA acetyltransferase 2 Synthesis
HMGCS1 3-hydroxy-3-methylglutaryl-CoA synthase 1 Synthesis
HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 Synthesis
HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase Synthesis (rate limiting enzyme)
MVK mevalonate kinase Synthesis
PMVK phosphomevalonate kinase Synthesis
MVD mevalonate decarboxylase Synthesis
IDI1 isopentenyl-diphosphate delta isomerase 1 Synthesis
IDI2 isopentenyl-diphosphate delta isomerase 2 Synthesis
FDPS farnesyl diphosphate synthase Synthesis
GGPS1 geranylgeranyl diphosphate synthase 1 Synthesis
FDFT1 farnesyl-diphosphate farnesyltransferase 1 Synthesis
SQLE squalene epoxidase Synthesis
LSS lanosterol synthase Synthesis
DHCR24 24-dehydrocholesterol reductase Synthesis
CYP51A1 cytochrome P450 family 51 subfamily A polypeptide 1 Synthesis
TM7SF2 transmembrane 7 superfamily member 2 Synthesis
FAXDC2 C5orf4 fatty acid hydroxylase domain containing 2 Synthesis
MSMO1 SC4MOL methylsterol monooxygenase Synthesis
NSDHL NAD(P) dependent steroid dehydrogenase-like Synthesis
HSD17B7 hydroxysteroid (17-beta) dehydrogenase 7 Synthesis
EBP emopamil binding protein (sterol isomerase) Synthesis
SC5D SC5DL sterol-C5-desaturase Synthesis
DHCR7 7-dehydrocholesterol reductase Synthesis (last step before cholesterol)
CEL carboxyl ester lipase Esterification
LIPA lipase A, lysosomal acid, cholesterol esterase Esterification
SOAT1 sterol O-acetyltransferase 1 Esterification
SOAT2 sterol O-acetyltransferase 2 Esterification
ABCA1 ATP-binding cassette, sub-family A Efflux
ABCG1 ATP-binding cassette, sub-family G Efflux
SLCO2B1 solute carrier organic anion transporter family member 2B1 Transport
SLCO1B3 solute carrier organic anion transporter family member 1B3 Transport
LDLR low density lipoprotein receptor Uptake
APOE apolipoprotein E Component for IDL, HDL and VLDL
SREBF1 sterol binding element transcription factor 1 Transcriptional activation
SREBF2 sterol binding element transcription factor 2 Transcriptional activation (main activator)
SCAP SREBF chaperone Transcriptional activation
MBTPS1 S1P membrane bound transcription factor peptidase site 1 Transcriptional activation
MBTPS2 S2P membrane bound transcription factor peptidase site 2 Transcriptional activation
INSIG1 insulin induced gene 1 HMGCR degradation
INSIG2 insulin induced gene 2 HMGCR degradation
AMFR GP78 autocrine motility factor receptor E3 ubiquitin protein ligase HMGCR degradation
NR1H3 LXRA nuclear receptor subfamily 1 group H member 3 Transcriptional repression
NR1H2 LXRB nuclear receptor subfamily 1 group H member 2 Transcriptional repression
RXRA retinoid X receptor alpha Transcriptional repression
RXRB retinoid X receptor beta Transcriptional repression
MYLIP IDOL myosin regulatory light chain interacting protein Degradation of LDLR
HHS Vulnerability Disclosure