Version 2.78

Description

The FBN1 gene (fibrillin 1) [HGNC Gene ID:3603] is located on chromosome 15q21.1. This gene encodes a member of the fibrillin family. The encoded protein is a large, extracellular matrix glycoprotein that serve as a structural component of 10-12 nm calcium-binding microfibrils. These microfibrils provide force bearing structural support in elastic and nonelastic connective tissue throughout the body. Mutations in this gene are associated with Marfan syndrome, isolated ectopia lentis, autosomal dominant Weill-Marchesani syndrome, MASS syndrome, and Shprintzen-Goldberg craniosynostosis syndrome. [provided by RefSeq, Jul 2008] [NCBI Gene ID:2200] 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 Display Name
FBN1 gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2005-03-30
Construct for LOINC Short Name
FBN1 gene

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP35579-9
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Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) FB1 基因
Synonyms: FBN;Marfan 综合征（一种常染色体显性遗传的结缔组织疾病,主要由原纤蛋白-1(FBN-1)基因突变引起.目前关于该基因突变导致Marfan综合征机制的研究主要集中在FBN-1基因的多外显子缺失、EGF模序半胱氨酸替代突变、cbEGF模序钙结合点突变、PTC突变、3''末端突变及24～32区突变等方面）;MASS;MFS1;OCTD;SGS;Weill-Marchesani 综合征;Weill-Marchesani 综合征(中胚层营养不良; 先天性中胚叶发育不良性疾病);WMS;肌原纤维蛋白 1 (
et-EE Estonian (Estonia) FBN1 geen
es-ES Spanish (Spain) Gen FBN1
it-IT Italian (Italy) FBN1, gene
Synonyms: Gene FBN1
tr-TR Turkish (Turkey) FBN1 geni
ru-RU Russian (Russian Federation) FBN1 ген
nl-NL Dutch (Netherlands) FBN1-gen
Synonyms: FBN1 gen