Version 2.78

Description

The EXT1 gene (exostosin glycosyltransferase 1) [HGNC Gene ID:3512] is located on chromosome 8q24.11. This gene encodes an endoplasmic reticulum-resident type II transmembrane glycosyltransferase involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type I form of multiple exostoses. [provided by RefSeq, Jul 2008] [NCBI Gene ID:2131] 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
EXT1 gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2005-01-06
Construct for LOINC Short Name
EXT1 gene

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP34985-9
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP34985-9

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) EXT1 基因
Synonyms: Exostosin-1;Hereditary multiple exostoses 1;Langer-Giedion 综合征;Trichorhinophalangeal 综合征 2;发鼻指骨综合征 2 型;发-鼻-指骨综合征 2 型;发鼻指骨综合征 II 型;发-鼻-指骨综合征 II 型;外生性骨疣 (多发性) 1;外生性骨疣素-1;外生性骨疣蛋白-1;外生骨疣 (多发性) 1;外生骨疣素-1;外生骨疣蛋白-1;毛发鼻腔指骨综合征 2;遗传性多发性外生骨疣 1;遗传性多发性外生骨软骨瘤 1
et-EE Estonian (Estonia) EXT1 geen
es-ES Spanish (Spain) Gen EXT1
it-IT Italian (Italy) EXT1, gene
Synonyms: Gene EXT1
tr-TR Turkish (Turkey) EXT1 geni
ru-RU Russian (Russian Federation) EXT1 ген
nl-NL Dutch (Netherlands) EXT1-gen
Synonyms: EXT1 gen