Version 2.78

Description

The ELN gene (elastin) [HGNC Gene ID:3327] is located on chromosome 7q11.23. This gene encodes a protein that is one of the two components of elastic fibers. The encoded protein is rich in hydrophobic amino acids such as glycine and proline, which form mobile hydrophobic regions bounded by crosslinks between lysine residues. Deletions and mutations in this gene are associated with supravalvular aortic stenosis (SVAS) and autosomal dominant cutis laxa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] [NCBI Gene ID:2006] 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
ELN gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2004-02-19
Construct for LOINC Short Name
ELN gene

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP33214-5
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP33214-5

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) EL 基因
Synonyms: SVAS;WBS;Williams 综合征;Williams-Beuren 综合征;WS;主动脉瓣下狭窄;威廉斯氏症;威廉斯综合征;弹性硬朊基因;弹性硬蛋白基因;弹性蛋白基因;特发性肥大性主动脉瓣下狭窄;瓣膜下主动脉狭窄;高钙血症主动脉瓣上部狭窄症候群
et-EE Estonian (Estonia) ELN geen
es-ES Spanish (Spain) Gen ELN
it-IT Italian (Italy) ELN, gene
Synonyms: Gene ELN
tr-TR Turkish (Turkey) ELN geni
ru-RU Russian (Russian Federation) ELN ген
nl-NL Dutch (Netherlands) ELN-gen
Synonyms: ELN gen