Version 2.78

Description

The ARX gene (aristaless related homeobox) [HGNC Gene ID:18060] is located on chromosome Xp21.3. This gene is a homeobox-containing gene expressed during development. The expressed protein contains two conserved domains, a C-peptide (or aristaless domain) and the prd-like class homeobox domain. It is a member of the group-II aristaless-related protein family whose members are expressed primarily in the central and/or peripheral nervous system. This gene is thought to be involved in CNS development. Mutations in this gene cause X-linked mental retardation and epilepsy. [provided by RefSeq, Jul 2008] [NCBI Gene ID:170302] 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
ARX gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2004-10-28
Construct for LOINC Short Name
ARX gene

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP34684-8
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP34684-8

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) ARX 基因
Synonyms: Partington X-连锁智力迟钝综合征;Partington X-连锁综合征(智力低下、共济失调和癫痫);Partington 综合征(智力低下、共济失调和癫痫);PRTS;幼儿痉挛综合征, X 染色体连锁;幼儿痉挛综合征, X-连锁;无芒相关同源框, X 染色体连锁;无芒相关同源框, X-连锁;Aristaless 相关性同源盒, X染色体连锁;Aristaless 相关性同源盒, X-连锁;HGNC:9496;ISSX;MRX36;MRX54;MRXS1;Partington X 染色体连锁智力
et-EE Estonian (Estonia) ARX geen
es-ES Spanish (Spain) Gen ARX
it-IT Italian (Italy) ARX, gene
Synonyms: Gene ARX
tr-TR Turkish (Turkey) ARX geni
ru-RU Russian (Russian Federation) ARX ген
nl-NL Dutch (Netherlands) ARX-gen
Synonyms: ARX gen