LP94224-0
DHCR7 gene
Active
Description
The DHCR7 gene (7-dehydrocholesterol reductase) [HGNC Gene ID:2860] is located on chromosome 11q13.4. This gene encodes an enzyme that removes the C(7-8) double bond in the B ring of sterols and catalyzes the conversion of 7-dehydrocholesterol to cholesterol. This gene is ubiquitously expressed and its transmembrane protein localizes to the endoplasmic reticulum membrane and nuclear outer membrane. Mutations in this gene cause Smith-Lemli-Opitz syndrome (SLOS); a syndrome that is metabolically characterized by reduced serum cholesterol levels and elevated serum 7-dehydrocholesterol levels and phenotypically characterized by mental retardation, facial dysmorphism, syndactyly of second and third toes, and holoprosencephaly in severe cases to minimal physical abnormalities and near-normal intelligence in mild cases. Alternative splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Aug 2009] [NCBI Gene ID:1717] Source: National Center for Biotechnology Information (NCBI) Gene
Reference Information
| Type | Source | Reference |
|---|---|---|
| Webcontent | Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. | Link to OMIM |
Basic Part Properties
- Part Name
- DHCR7 gene
- Part Display Name
- DHCR7 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2009-03-13
- Construct for LOINC Short Name
- DHCR7 gene
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Gen DHCR7 |
| it-IT | Italian (Italy) | DHCR7, gene Synonyms: Gene DHCR7 |
| et-EE | Estonian (Estonia) | DHCR7 geen |
| zh-CN | Chinese (China) | DHCR7 基因 Synonyms: SLOS; |
| tr-TR | Turkish (Turkey) | DHCR7 geni |
| ru-RU | Russian (Russian Federation) | DHCR7 ген |
| nl-NL | Dutch (Netherlands) | DHCR7-gen Synonyms: DHCR7 gen |
| el-GR | Greek (Greece) | Γονίδιο DHCR7 Synonyms: Γονίδιο DHCR7 |
LOINC Copyright
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