LP173717-2
Desmosterol
Active
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, PMID: 16207203. Copyright Copyright ©2005-2009 Genome Alberta (Reference to original publication: Wishart DS, Knox C, Guo AC, et al. HMDB: a knowledgebase for the human metabolome. Nucleic Acids Res. 2009 37(Database issue):D603-610.) Source: Human Metabolome Database, HMDB: 02719
Basic Part Properties
- Part Display Name
- Desmosterol
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2013-09-04
- Construct for LOINC Short Name
- Desmosterol
LOINC Terminology Service (API) using HL7® FHIR® Get Info
Requests to this service require a free LOINC username and password. Below is a sample of the possible capabilities. See the LOINC Terminology Service documentation for more information.
- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=LP173717-2 - ConceptMap translate
- https:
//fhir.loinc.org/ConceptMap/$translate?system=http: //loinc.org&code=LP173717-2
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
zh-CN | Chinese (China) | 链甾醇 Synonyms: 24-脱氢胆固醇; |
es-ES | Spanish (Spain) | Desmosterol |
it-IT | Italian (Italy) | Desmosterolo |
tr-TR | Turkish (Turkey) | Dezmosterol |
ru-RU | Russian (Russian Federation) | Десмостерол |
nl-NL | Dutch (Netherlands) | desmosterol |
fr-CA | French (Canada) | Desmostérol |
LOINC Copyright
Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright