LP36762-0
BHD gene
Active
Description
The BHD gene (folliculin) gene is located on chromosome 17p11.2. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Mutations in this gene are associated with Birt-Hogg-Dube syndrome, which is characterized by fibrofolliculomas, renal tumors, lung cysts, and pneumothorax. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] [NCBI Gene ID:201163] 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
- BHD gene
- Part Display Name
- BHD gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2006-03-14
- Construct for LOINC Short Name
- BHD 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) | BHD 基因 Synonyms: 3-羟丁酸脱氢酶 (心脏, 线粒体) 基因; |
| et-EE | Estonian (Estonia) | BHD geen |
| es-ES | Spanish (Spain) | Gen BHD |
| it-IT | Italian (Italy) | BHD, gene Synonyms: Gene BHD |
| tr-TR | Turkish (Turkey) | BHD geni |
| ru-RU | Russian (Russian Federation) | BHD ген |
| nl-NL | Dutch (Netherlands) | BHD-gen Synonyms: BHD gen |
| fr-FR | French (France) | BHD gène |
| pl-PL | Polish (Poland) | BHD gen Synonyms: Gen BHD |
| el-GR | Greek (Greece) | Γονίδιο BHD Synonyms: Γονίδιο BHD |
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://