RGD Reference Report - Defects of cholesterol biosynthesis. - Rat Genome Database

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Defects of cholesterol biosynthesis.

Authors: Waterham, HR 
Citation: Waterham HR FEBS Lett. 2006 Oct 9;580(23):5442-9. Epub 2006 Jul 20.
RGD ID: 2316857
Pubmed: PMID:16876788   (View Abstract at PubMed)
DOI: DOI:10.1016/j.febslet.2006.07.027   (Journal Full-text)

Eight distinct inherited disorders have been linked to different enzyme defects in the isoprenoid/cholesterol biosynthetic pathway following the finding of abnormally increased levels of intermediate metabolites in patients and confirmed by the demonstration of disease-causing mutations in genes encoding the implicated enzymes. Patients afflicted with these disorders are characterized by multiple morphogenic and congenital anomalies including internal organ, skeletal and/or skin abnormalities underlining an important role for cholesterol in human embryogenesis and development. The etiology of the underlying pathophysiology may involve multiple affected processes due to lowered cholesterol and/or the elevated, teratogenic levels of the intermediate sterol precursors.



Molecular Pathway Annotations    Click to see Annotation Detail View

RGD Manual Annotations


  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
ACAT2Humancholesterol biosynthetic pathway   TAS  RGD 
Acat2Ratcholesterol biosynthetic pathway   ISOACAT2 (Homo sapiens) RGD 
Acat2Mousecholesterol biosynthetic pathway   ISOACAT2 (Homo sapiens) RGD 
CYP51A1Humancholesterol biosynthetic pathway   TAS  RGD 
Cyp51Ratcholesterol biosynthetic pathway   ISOCYP51A1 (Homo sapiens) RGD 
Cyp51Mousecholesterol biosynthetic pathway   ISOCYP51A1 (Homo sapiens) RGD 
DHCR24Humancholesterol biosynthetic pathway   TAS  RGD 
DHCR7Humancholesterol biosynthetic pathway   TAS  RGD 
Dhcr24Ratcholesterol biosynthetic pathway   ISODHCR24 (Homo sapiens) RGD 
Dhcr24Mousecholesterol biosynthetic pathway   ISODHCR24 (Homo sapiens) RGD 
Dhcr7Ratcholesterol biosynthetic pathway   ISODHCR7 (Homo sapiens) RGD 
Dhcr7Mousecholesterol biosynthetic pathway   ISODHCR7 (Homo sapiens) RGD 
EBPHumancholesterol biosynthetic pathway   TAS  RGD 
EbpRatcholesterol biosynthetic pathway   ISOEBP (Homo sapiens) RGD 
EbpMousecholesterol biosynthetic pathway   ISOEBP (Homo sapiens) RGD 
FDFT1Humancholesterol biosynthetic pathway   TAS  RGD 
FDPSHumancholesterol biosynthetic pathway   TAS  RGD 
Fdft1Ratcholesterol biosynthetic pathway   ISOFDFT1 (Homo sapiens) RGD 
Fdft1Mousecholesterol biosynthetic pathway   ISOFDFT1 (Homo sapiens) RGD 
FdpsRatcholesterol biosynthetic pathway   ISOFDPS (Homo sapiens) RGD 
FdpsMousecholesterol biosynthetic pathway   ISOFDPS (Homo sapiens) RGD 
HMGCRHumancholesterol biosynthetic pathway   TAS  RGD 
HMGCS1Humancholesterol biosynthetic pathway   TAS  RGD 
HmgcrRatcholesterol biosynthetic pathway   ISOHMGCR (Homo sapiens) RGD 
HmgcrMousecholesterol biosynthetic pathway   ISOHMGCR (Homo sapiens) RGD 
Hmgcs1Ratcholesterol biosynthetic pathway   ISOHMGCS1 (Homo sapiens) RGD 
Hmgcs1Mousecholesterol biosynthetic pathway   ISOHMGCS1 (Homo sapiens) RGD 
IDI1Humancholesterol biosynthetic pathway   TAS  RGD 
Idi1Ratcholesterol biosynthetic pathway   ISOIDI1 (Homo sapiens) RGD 
Idi1Mousecholesterol biosynthetic pathway   ISOIDI1 (Homo sapiens) RGD 
LBRHumancholesterol biosynthetic pathway   TAS  RGD 
LSSHumancholesterol biosynthetic pathway   TAS  RGD 
LbrRatcholesterol biosynthetic pathway   ISOLBR (Homo sapiens) RGD 
LbrMousecholesterol biosynthetic pathway   ISOLBR (Homo sapiens) RGD 
LssRatcholesterol biosynthetic pathway   ISOLSS (Homo sapiens) RGD 
LssMousecholesterol biosynthetic pathway   ISOLSS (Homo sapiens) RGD 
MVDHumancholesterol biosynthetic pathway   TAS  RGD 
MVKHumancholesterol biosynthetic pathway   TAS  RGD 
MvdRatcholesterol biosynthetic pathway   ISOMVD (Homo sapiens) RGD 
MvdMousecholesterol biosynthetic pathway   ISOMVD (Homo sapiens) RGD 
MvkRatcholesterol biosynthetic pathway   ISOMVK (Homo sapiens) RGD 
MvkMousecholesterol biosynthetic pathway   ISOMVK (Homo sapiens) RGD 
NSDHLHumancholesterol biosynthetic pathway   TAS  RGD 
NsdhlRatcholesterol biosynthetic pathway   ISONSDHL (Homo sapiens) RGD 
NsdhlMousecholesterol biosynthetic pathway   ISONSDHL (Homo sapiens) RGD 
PMVKHumancholesterol biosynthetic pathway   TAS  RGD 
PmvkRatcholesterol biosynthetic pathway   ISOPMVK (Homo sapiens) RGD 
PmvkMousecholesterol biosynthetic pathway   ISOPMVK (Homo sapiens) RGD 
SC5DHumancholesterol biosynthetic pathway   TAS  RGD 
SQLEHumancholesterol biosynthetic pathway   TAS  RGD 
Sc5dRatcholesterol biosynthetic pathway   ISOSC5D (Homo sapiens) RGD 
Sc5dMousecholesterol biosynthetic pathway   ISOSC5D (Homo sapiens) RGD 
SqleRatcholesterol biosynthetic pathway   ISOSQLE (Homo sapiens) RGD 
SqleMousecholesterol biosynthetic pathway   ISOSQLE (Homo sapiens) RGD 
Objects Annotated

Genes (Rattus norvegicus)
Acat2  (acetyl-CoA acetyltransferase 2)
Cyp51  (cytochrome P450, family 51)
Dhcr24  (24-dehydrocholesterol reductase)
Dhcr7  (7-dehydrocholesterol reductase)
Ebp  (EBP, cholestenol delta-isomerase)
Fdft1  (farnesyl diphosphate farnesyl transferase 1)
Fdps  (farnesyl diphosphate synthase)
Hmgcr  (3-hydroxy-3-methylglutaryl-CoA reductase)
Hmgcs1  (3-hydroxy-3-methylglutaryl-CoA synthase 1)
Idi1  (isopentenyl-diphosphate delta isomerase 1)
Lbr  (lamin B receptor)
Lss  (lanosterol synthase)
Mvd  (mevalonate diphosphate decarboxylase)
Mvk  (mevalonate kinase)
Nsdhl  (NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL)
Pmvk  (phosphomevalonate kinase)
Sc5d  (sterol-C5-desaturase)
Sqle  (squalene epoxidase)

Genes (Mus musculus)
Acat2  (acetyl-Coenzyme A acetyltransferase 2)
Cyp51  (cytochrome P450, family 51)
Dhcr24  (24-dehydrocholesterol reductase)
Dhcr7  (7-dehydrocholesterol reductase)
Ebp  (EBP cholestenol delta-isomerase)
Fdft1  (farnesyl diphosphate farnesyl transferase 1)
Fdps  (farnesyl diphosphate synthetase)
Hmgcr  (3-hydroxy-3-methylglutaryl-Coenzyme A reductase)
Hmgcs1  (3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1)
Idi1  (isopentenyl-diphosphate delta isomerase)
Lbr  (lamin B receptor)
Lss  (lanosterol synthase)
Mvd  (mevalonate (diphospho) decarboxylase)
Mvk  (mevalonate kinase)
Nsdhl  (NAD(P) dependent steroid dehydrogenase-like)
Pmvk  (phosphomevalonate kinase)
Sc5d  (sterol-C5-desaturase)
Sqle  (squalene epoxidase)

Genes (Homo sapiens)
ACAT2  (acetyl-CoA acetyltransferase 2)
CYP51A1  (cytochrome P450 family 51 subfamily A member 1)
DHCR24  (24-dehydrocholesterol reductase)
DHCR7  (7-dehydrocholesterol reductase)
EBP  (EBP cholestenol delta-isomerase)
FDFT1  (farnesyl-diphosphate farnesyltransferase 1)
FDPS  (farnesyl diphosphate synthase)
HMGCR  (3-hydroxy-3-methylglutaryl-CoA reductase)
HMGCS1  (3-hydroxy-3-methylglutaryl-CoA synthase 1)
IDI1  (isopentenyl-diphosphate delta isomerase 1)
LBR  (lamin B receptor)
LSS  (lanosterol synthase)
MVD  (mevalonate diphosphate decarboxylase)
MVK  (mevalonate kinase)
NSDHL  (NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL)
PMVK  (phosphomevalonate kinase)
SC5D  (sterol-C5-desaturase)
SQLE  (squalene epoxidase)


Additional Information