MiMeDB: Showing metabocard for Desmosterol (MMDBc0047782)

Record Information

Version

1.0

Status

Detected and Quantified

Creation Date

2021-11-19 15:42:24 UTC

Update Date

2022-09-01 01:48:28 UTC

MiMeDB ID

MMDBc0047782

Metabolite Identification

Common Name

Desmosterol

Description

Desmosterol is an intermediate in the synthesis of cholesterol. Desmosterolosis is a rare autosomal recessive inborn errors of cholesterol synthesis that is caused by defective activity of desmosterol reductase which results in an accumulation of demosterol (DHCR24, EC 1.3.1.72), combines a severe osteosclerotic skeletal dysplasia and includes 2-3 toe syndactyly with Smith-Lemli-Opitz syndrome (SLOS; the biochemical block in SLOS results in decreased cholesterol levels and increased 7-dehydrocholesterol levels). Desmosterolosis is caused by mutation of the 24-dehydrocholesterol reductase gene (DHCR24). Many of the malformations in SLOS and desmosterolosis are consistent with impaired hedgehog function. The hedgehog proteins include Sonic hedgehog (SHH), which plays a major role in midline patterning and limb development. Desmosterolosis, caused by defective activity of desmosterol reductase, combines a severe osteosclerotic skeletal dysplasia. 7-dehydrocholesterol reductase (DHCR7, EC 1.3.1.21) reduces the C7-C8 double bond in the sterol B ring to form cholesterol or desmosterol depending upon the precursor. Desmosterol can be converted to cholesterol by DHCR24. Therefore, SLOS and Desmosterolosis patients invariably have elevated levels of cholesterol precursor's 7-dehydrocholesterol (and its spontaneous isomer 8-dehydrocholesterol) and absent desmosterol. (PMID: 14631207 , 16207203 ).

Structure

MOL SDF PDB SMILES InChI

Synonyms

Not Available

Chemical Formula

C₂₇H₄₄O

Average Molecular Weight

384.6377

Monoisotopic Molecular Weight

384.33921603

IUPAC Name

Not Available

Traditional Name

Not Available

CAS Registry Number

Not Available

SMILES

Not Available

InChI Identifier

InChI=1S/C27H44O/c1-18(2)7-6-8-19(3)23-11-12-24-22-10-9-20-17-21(28)13-15-26(20,4)25(22)14-16-27(23,24)5/h7,9,19,21-25,28H,6,8,10-17H2,1-5H3/t19-,21+,22+,23-,24+,25+,26+,27-/m1/s1

InChI Key

AVSXSVCZWQODGV-DPAQBDIFSA-N

Chemical Taxonomy

Functional Ontology

Not Available

Physical Properties

State

Solid

Predicted Properties

Not Available

Spectra

Not Available

Biological Properties

Cellular Locations

Endoplasmic reticulum
Extracellular
Membrane

Biospecimen Locations

Blood
Brain
Feces
Kidney
Semen

Tissue Locations

Brain
Kidney

Associated OMIM IDs

114500 (Colorectal cancer)
610247 (Eosinophilic esophagitis)

Human Proteins and Enzymes

Proteins

#<MetaboliteProteinLink:0x000055b76e2d4c88>

Human Pathways

Pathways

Name	SMPDB/PathBank
Bloch Pathway (Cholesterol Biosynthesis)

Metabolic Reactions

Reaction ID	Precursor	Product	Enzyme	Reaction Type	Data Source	Reference

Health Effects and Bioactivity

Health Outcome/Bioactivity	Metabolite Response/Effect	Related Health Condition	Evidence Type	Measured in Matrix	Data Source	Reference
Primary biliary cirrhosis		This associated disease is originally imported from HMDB metabolite HMDB0002719 concentration id 8940	Association	Human Blood		2010161	details

Microbial Sources

Kingdom	Phylum	Total species	Hosts and Body Sites	Microbial Links
Fungi	Ascomycota	1	Human Feces	Unknown

Exposure Sources

Source Type	Source Sub-type	Species	Data Source	Reference	Details

Host Biospecimen and Location

Host and Biospecimen	Status	Mean	Std	Age	Sex	Health Condition	Data Source	Reference
Human Feces	Detected but not Quantified						HMDB		details
Human	Detected and Quantified	155.991		Children (1-13 years old)	Male	Desmosterolosis	HMDB	12457401	details
Human	Detected and Quantified	2.9	0.4	Adult (>18 years old)	Not Specified	Primary biliary cirrhosis	HMDB	2010161	details
Human	Detected and Quantified	0.79	0.017	Adult (>18 years old)	Both	Normal	HMDB	20671299	details
Human	Detected and Quantified	1.300	0.780	Children (1-13 years old)	Not Specified	Normal	HMDB	12457401	details
Human	Detected and Quantified	1.81	0.067	Adult (>18 years old)	Both	Normal	HMDB	20671299	details
Human	Detected and Quantified	180	20	Adult (>18 years old)	Male	Normal	HMDB	11762778	details
Human	Detected and Quantified	2.37	1.04	Adult (>18 years old)	Not Specified	Normal	HMDB	16807145	details
Human	Detected and Quantified	2.9	0.2	Adult (>18 years old)	Not Specified	Normal	HMDB	2010161	details
Human Brain	Detected but not Quantified			Not Specified	Not Specified	Normal	HMDB	34986597	details
Human Kidney	Detected but not Quantified			Not Specified	Not Specified	Normal	HMDB	34986597	details

External Links

Not Available

References

Synthesis Reference

Not Available

General References

Nordby G, Norum KR: Substrate specificity of lecithin:cholesterol acyltransferase. Esterification of desmosterol, b-sitosterol, and cholecalciferol in human plasma. Scand J Clin Lab Invest. 1975 Nov;35(7):677-82. [PubMed:174187 ]
Paoletti P, Pezzotta S, Racca AR, Fumagalli R: Chemotherapy of human nervous system tumors: influence on cerebrospinal fluid sterols. Natl Cancer Inst Monogr. 1977 Dec;46:125-6. [PubMed:613223 ]
Rosenfeld RS, Bradlow HL, Levin J, Zumoff B: Preparation of [24,25-3H] cholesterol. Oxidation in man as a measure of bile acid formation. J Lipid Res. 1978 Sep;19(7):850-5. [PubMed:712244 ]
Volpe JJ, Hennessy SW: Cholesterol biosynthesis and 3-hydroxy-3-methyl-glutaryl coenzyme A reductase in cultured glial and neuronal cells. Regulation by lipoprotein and by certain free sterols. Biochim Biophys Acta. 1977 Mar 25;486(3):408-20. doi: 10.1016/0005-2760(77)90090-x. [PubMed:856284 ]
Miettinen TA, Kesaniemi YA, Jarvinen H, Hastbacka J: Cholesterol precursor sterols, plant sterols, and cholestanol in human bile and gallstones. Gastroenterology. 1986 Apr;90(4):858-64. doi: 10.1016/0016-5085(86)90861-9. [PubMed:3081398 ]
Dennick RG, Dean PD, Abramovich DA: Desmosterol levels in human foetal brain--a reassessment. J Neurochem. 1973 Apr;20(4):1293-4. doi: 10.1111/j.1471-4159.1973.tb00102.x. [PubMed:4697890 ]
Clark RM, Fey MB, Jensen RG, Hill DW: Desmosterol in human milk. Lipids. 1983 Mar;18(3):264-6. doi: 10.1007/BF02534559. [PubMed:6855485 ]
Miettinen TE, Kesaniemi YA, Gylling H, Jarvinen H, Silvennoinen E, Miettinen TA: Noncholesterol sterols in bile and stones of patients with cholesterol and pigment stones. Hepatology. 1996 Feb;23(2):274-80. doi: 10.1002/hep.510230212. [PubMed:8591852 ]
Phillips KM, Ruggio DM, Bailey JA: Precise quantitative determination of phytosterols, stanols, and cholesterol metabolites in human serum by capillary gas-liquid chromatography. J Chromatogr B Biomed Sci Appl. 1999 Sep 10;732(1):17-29. doi: 10.1016/s0378-4347(99)00257-1. [PubMed:10517218 ]
Porter FD: Human malformation syndromes due to inborn errors of cholesterol synthesis. Curr Opin Pediatr. 2003 Dec;15(6):607-13. doi: 10.1097/00008480-200312000-00011. [PubMed:14631207 ]
Beasley CL, Honer WG, Bergmann K, Falkai P, Lutjohann D, Bayer TA: Reductions in cholesterol and synaptic markers in association cortex in mood disorders. Bipolar Disord. 2005 Oct;7(5):449-55. doi: 10.1111/j.1399-5618.2005.00239.x. [PubMed:16176438 ]
Yu H, Patel SB: Recent insights into the Smith-Lemli-Opitz syndrome. Clin Genet. 2005 Nov;68(5):383-91. doi: 10.1111/j.1399-0004.2005.00515.x. [PubMed:16207203 ]
Siirtola A, Ketomaki A, Miettinen TA, Gylling H, Lehtimaki T, Holmberg C, Salo MK, Antikainen M: Cholesterol absorption and synthesis in pediatric kidney, liver, and heart transplant recipients. Transplantation. 2006 Feb 15;81(3):327-34. doi: 10.1097/01.tp.0000189173.46727.18. [PubMed:16477216 ]

Showing metabocard for Desmosterol (MMDBc0047782)

MOL for #<Metabolite:0x000055b76bbf3588>

3D MOL for #<Metabolite:0x000055b76bbf3588>

3D SDF for #<Metabolite:0x000055b76bbf3588>

3D-SDF for #<Metabolite:0x000055b76bbf3588>

PDB for #<Metabolite:0x000055b76bbf3588>

3D PDB for #<Metabolite:0x000055b76bbf3588>

SMILES for #<Metabolite:0x000055b76bbf3588>

INCHI for #<Metabolite:0x000055b76bbf3588>

Structure for #<Metabolite:0x000055b76bbf3588>

3D Structure for #<Metabolite:0x000055b76bbf3588>