Desmosterol

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Desmosterol
2D structure for Desmosterol
Chemical Name	(3S,8S,9S,10R,13R,14S,17R)-10,13-dimethyl-17-[(2R)-6-methylhept-5-en-2-yl]-2,3,4,7,8,9,11,12,14,15,16,17-dodecahydro-1H-cyclopenta[a]phenanthren-3-ol
Chemical Formula	C₂₇H₄₄O
CAS Number	313-04-2
Chemical Information	HMDB02719
Biochemical Taxonomy	Steroids and Steroid Derivatives
Functional Taxonomy	Not Available
Nutritional Taxonomy	Not Available
Metabolic Pathways	Not Available
Biofluid Location	Blood Semen
Tissue Location	Kidney Brain
Normal Biofluid Concentrations	Blood: 2.2 +/- 0.5 uM Blood: 2.37 +/- 1.04 uM Semen: 180 +/- 20 uM
Normal Tissue Concentrations	Not Available
Diseases / Conditions Related to Nutrition	Patients with primary biliary cirrhosis before liver transplantation
Other (Monogenic Disorders)	Desmosterolosis OMIM: 602398 Raine syndrome OMIM: 259775
Abnormal Biofluid Concentrations	Blood (Patients with primary biliary cirrhosis before liver transplantation): 2.9 +/- 0.4 uM
Abnormal Tissue Concentrations	Not Available
Physiological Processes	Not Available

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Introduction

guidelines
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 (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)