LP36438-7
FBN2 gene
Active
Description
The FBN2 gene (fibrillin 2) [HGNC Gene ID:3604] is located on chromosome 5q23-q31. The protein encoded by this gene is a component of connective tissue microfibrils and may be involved in elastic fiber assembly. Mutations in this gene cause congenital contractural arachnodactyly. [provided by RefSeq, Jul 2008] [NCBI Gene ID:2201] 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
- FBN2 gene
- Part Display Name
- FBN2 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2005-12-28
- Construct for LOINC Short Name
- FBN2 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) | FB2 基因 Synonyms: CCA; |
| et-EE | Estonian (Estonia) | FBN2 geen |
| es-ES | Spanish (Spain) | Gen FBN2 |
| it-IT | Italian (Italy) | FBN2, gene Synonyms: Gene FBN2 |
| tr-TR | Turkish (Turkey) | FBN2 geni |
| ru-RU | Russian (Russian Federation) | FBN2 ген |
| nl-NL | Dutch (Netherlands) | FBN2-gen Synonyms: FBN2 gen |
| fr-FR | French (France) | FBN2 gène |
| pl-PL | Polish (Poland) | FBN2 gen Synonyms: Gen FBN2 |
| el-GR | Greek (Greece) | Γονίδιο FBN2 Synonyms: Γονίδιο FBN2 |
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://