LP97416-9
CYP11B1 gene
Active
Description
The CYP11B1 gene (cytochrome P450, family 11, subfamily B, polypeptide 1) [HGNC Gene ID:2591] is located on chromosome 8q21. This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane and is involved in the conversion of progesterone to cortisol in the adrenal cortex. Mutations in this gene cause congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. Transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008] [NCBI Gene ID:1584] 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
- CYP11B1 gene
- Part Display Name
- CYP11B1 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2009-10-02
- Construct for LOINC Short Name
- CYP11B1 gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | CYP11B1 基因 Synonyms: cytochrome P450, family 11, subfamily B, polypeptide 1; |
| et-EE | Estonian (Estonia) | CYP11B1 geen |
| es-ES | Spanish (Spain) | Gen CYP11B1 |
| it-IT | Italian (Italy) | CYP11B1, gene Synonyms: Gene CYP11B1 |
| tr-TR | Turkish (Turkey) | CYP11B1 geni |
| ru-RU | Russian (Russian Federation) | CYP11B1 ген |
| nl-NL | Dutch (Netherlands) | CYP11B1-gen Synonyms: CYP11B1 gen |
| fr-FR | French (France) | CYP11B1 gène |
| pl-PL | Polish (Poland) | CYP11B1 gen Synonyms: Gen CYP11B1 |
| el-GR | Greek (Greece) | Γονίδιο CYP11B1 Synonyms: Γονίδιο CYP11B1 |
LOINC Copyright
Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://