Page last updated: 2024-10-06

27-Hydroxylase Deficiency

Proteins (17)

ProteinSynonymsTaxonomy
Cholesterol 24-hydroxylaseCH24H; EC 1.14.14.25; Cholesterol 24-monooxygenase; Cholesterol 24S-hydroxylase; Cytochrome P450 46A1Homo sapiens (human)
Bile acyl-CoA synthetaseBACS; EC 6.2.1.7; Bile acid-CoA ligase; BA-CoA ligase; BAL; Cholate--CoA ligase; Fatty acid transport protein 5; FATP-5; Fatty-acid-coenzyme A ligase, very long-chain 3; Solute carrier family 27 member 5; Very long-chain acyl-CoA synthetase homolog 2; VLCHomo sapiens (human)
Aldo-keto reductase family 1 member C4EC 1.1.1.-; EC 1.1.1.209; EC 1.1.1.210; EC 1.1.1.51; EC 1.1.1.53; EC 1.1.1.62; 3-alpha-hydroxysteroid dehydrogenase type I; 3-alpha-HSD1; 1.1.1.357; 3alpha-hydroxysteroid 3-dehydrogenase; Chlordecone reductase; CDR; 1.1.1.225; Dihydrodiol dehydrogenase 4;Homo sapiens (human)
7-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylaseEC 1.14.18.8; 7-alpha-hydroxy-4-cholesten-3-one 12-alpha-hydroxylase; CYPVIIIB1; Cytochrome P450 8B1; Sterol 12-alpha-hydroxylaseHomo sapiens (human)
Lysosomal acid lipase/cholesteryl ester hydrolaseAcid cholesteryl ester hydrolase; LAL; EC 3.1.1.13; Cholesteryl esterase; Lipase A; Sterol esteraseHomo sapiens (human)
Cytochrome P450 7A124-hydroxycholesterol 7-alpha-hydroxylase; 1.14.14.26; CYPVII; Cholesterol 7-alpha-hydroxylase; Cholesterol 7-alpha-monooxygenase; 1.14.14.23Homo sapiens (human)
Sterol 26-hydroxylase, mitochondrialEC 1.14.15.15; 5-beta-cholestane-3-alpha,7-alpha,12-alpha-triol 26-hydroxylase; Cytochrome P-450C27/25; Cytochrome P450 27; Sterol 27-hydroxylase; Vitamin D(3) 25-hydroxylaseHomo sapiens (human)
Alpha-methylacyl-CoA racemase EC 5.1.99.4; 2-methylacyl-CoA racemaseHomo sapiens (human)
Peroxisomal multifunctional enzyme type 2MFE-2; 17-beta-hydroxysteroid dehydrogenase 4; 17-beta-HSD 4; D-bifunctional protein; DBP; Multifunctional protein 2; MFP-2; Short chain dehydrogenase/reductase family 8C member 1Homo sapiens (human)
Peroxisomal acyl-coenzyme A oxidase 2EC 1.17.99.3; 3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase; 3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA oxidase; Trihydroxycoprostanoyl-CoA oxidase; THCA-CoA oxidase; THCCoxHomo sapiens (human)
Sterol carrier protein 2SCP-2; Acetyl-CoA C-myristoyltransferase; 2.3.1.155; Non-specific lipid-transfer protein; NSL-TP; Propanoyl-CoA C-acyltransferase; 2.3.1.176; SCP-2/3-oxoacyl-CoA thiolase; SCP-2/thiolase; 2.3.1.16; SCP-chi; SCPX; Sterol carrier protein X; SCP-X; Straight-Homo sapiens (human)
Bile acid-CoA:amino acid N-acyltransferaseBACAT; BAT; EC 2.3.1.65; Bile acid-CoA thioesterase; Choloyl-CoA hydrolase; 3.1.2.27; Glycine N-choloyltransferase; Long-chain fatty-acyl-CoA hydrolase; 3.1.2.2Homo sapiens (human)
Cholesterol 25-hydroxylaseEC 1.14.99.38; Cholesterol 25-monooxygenase; h25OHHomo sapiens (human)
Cytochrome P450 7B124-hydroxycholesterol 7-alpha-hydroxylase; 1.14.14.26; 25/26-hydroxycholesterol 7-alpha-hydroxylase; 1.14.14.29; 3-hydroxysteroid 7-alpha hydroxylase; Oxysterol 7-alpha-hydroxylaseHomo sapiens (human)
24-hydroxycholesterol 7-alpha-hydroxylaseEC 1.14.14.26; Cytochrome P450 39A1; hCYP39A1; Oxysterol 7-alpha-hydroxylaseHomo sapiens (human)
Aldo-keto reductase family 1 member D1EC 1.3.1.3; 3-oxo-5-beta-steroid 4-dehydrogenase; Delta(4)-3-ketosteroid 5-beta-reductase; Delta(4)-3-oxosteroid 5-beta-reductaseHomo sapiens (human)
3 beta-hydroxysteroid dehydrogenase type 73 beta-hydroxysteroid dehydrogenase type VII; 3-beta-HSD VII; 3-beta-hydroxy-Delta(5)-C27 steroid oxidoreductase; C(27) 3-beta-HSD; 1.1.1.-; Cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase; 1.1.1.181Homo sapiens (human)

Compounds (35)

CompoundDescription
chenodeoxycholic acidA bile acid, usually conjugated with either glycine or taurine. It acts as a detergent to solubilize fats for intestinal absorption and is reabsorbed by the small intestine. It is used as cholagogue, a choleretic laxative, and to prevent or dissolve gallstones.
taurineA conditionally essential nutrient, important during mammalian development. It is present in milk but is isolated mostly from ox bile and strongly conjugates bile acids.
cholic acidA major primary bile acid produced in the liver and usually conjugated with glycine or taurine. It facilitates fat absorption and cholesterol excretion.
deoxycholic acidA bile acid formed by bacterial action from cholate. It is usually conjugated with glycine or taurine. Deoxycholic acid acts as a detergent to solubilize fats for intestinal absorption, is reabsorbed itself, and is used as a choleretic and detergent.
NADH
Adenosine TriphosphateAn adenine nucleotide containing three phosphate groups esterified to the sugar moiety. In addition to its crucial roles in metabolism adenosine triphosphate is a neurotransmitter.
CholesterolThe principal sterol of all higher animals, distributed in body tissues, especially the brain and spinal cord, and in animal fats and oils.
adenosine diphosphateAdenosine 5'-(trihydrogen diphosphate). An adenine nucleotide containing two phosphate groups esterified to the sugar moiety at the 5'-position.
taurocholic acidThe product of conjugation of cholic acid with taurine. Its sodium salt is the chief ingredient of the bile of carnivorous animals. It acts as a detergent to solubilize fats for absorption and is itself absorbed. It is used as a cholagogue and cholerectic.
WaterA clear, odorless, tasteless liquid that is essential for most animal and plant life and is an excellent solvent for many substances. The chemical formula is hydrogen oxide (H2O). (McGraw-Hill Dictionary of Scientific and Technical Terms, 4th ed)
OxygenAn element with atomic symbol O, atomic number 8, and atomic weight [15.99903; 15.99977]. It is the most abundant element on earth and essential for respiration.
palmitic acidA common saturated fatty acid found in fats and waxes including olive oil, palm oil, and body lipids.
Coenzyme A
cholestane-3,7,26-triol
25-hydroxycholesterol
glycolithocholic acidRN given refers to (3alpha,5beta)-isomer
7,25-dihydroxycholesterolhas various immunosupressive effects; RN given refers to (3beta)-isomer; RN for cpd without isomeric designation not available 12/88
24-hydroxycholesterol
3,7,12-trihydroxycholestan-26-oic acidRN given refers to (3alpha,5beta,7alpha,12alpha)-isomer
7 alpha-hydroxy-4-cholesten-3-onestructure
27-hydroxycholesterol
3,7,12-trihydroxycoprostaneintermediate in bile acid synthesis in liver; enhances rate of porphyrin synthesis in cultured liver cells by induction of delta-aminolevulinic acid synthetase; RN given refers to (3alpha,5beta,7alpha,12alpha)-isomer; structure
cholestane-3,7,12,26-tetrolprecursor of cholic acid biosyn in man; RN given refers to (3alpha,5beta,7alpha,12alpha)-isomer
dihydroxycoprostaneintermediate in bile acid synthesis in the liver; enhance rate of prophyrin synthesis in cultured liver cells by induction of delta-aminolevulinic acid synthetase; RN given refers to (3alpha,5beta,7alpha)-isomer; structure
3,7-dihydroxy-5-cholestenoic acidfound in patients with liver disease
7 alpha-hydroxy-3-oxo-4-cholestenoic acidunconjugated bile acid found in human blood; structure given in first source
3,7,12-trihydroxycholestan-26-alstructure in first source
cholest-5-ene-3,7,27-triol
NADA coenzyme composed of ribosylnicotinamide 5'-diphosphate coupled to adenosine 5'-phosphate by pyrophosphate linkage. It is found widely in nature and is involved in numerous enzymatic reactions in which it serves as an electron carrier by being alternately oxidized (NAD+) and reduced (NADH). (Dorland, 27th ed)
sodium taurodeoxycholate
taurochenodeoxycholic acidA bile salt formed in the liver by conjugation of chenodeoxycholate with taurine, usually as the sodium salt. It acts as detergent to solubilize fats in the small intestine and is itself absorbed. It is used as a cholagogue and choleretic.
Adenosine 3'-Phosphate
creolinfrom refined coal tar oils
pyrophosphate
lithocholic acidA bile acid formed from chenodeoxycholate by bacterial action, usually conjugated with glycine or taurine. It acts as a detergent to solubilize fats for absorption and is itself absorbed. It is used as cholagogue and choleretic.