ARX (aristaless related homeobox)

2004-05-01  

Identity

HGNC
LOCATION
Xp21.3
LOCUSID
ALIAS
CT121,EIEE1,ISSX,MRX29,MRX32,MRX33,MRX36,MRX38,MRX43,MRX54,MRX76,MRX87,MRXS1,PRTS

Other Information

Locus ID:

NCBI: 170302
MIM: 300382
HGNC: 18060
Ensembl: ENSG00000004848

Variants:

dbSNP: 170302
ClinVar: 170302
TCGA: ENSG00000004848
COSMIC: ARX

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000004848ENST00000379044Q96QS3
ENSG00000004848ENST00000637993A0A1B0GUI3

Expression (GTEx)

0
50
100
150

References

Pubmed IDYearTitleCitations
123798522002Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans.179
119718792002ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation.70
127368702003Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation.70
189230432008Arx is a direct target of Dlx2 and thereby contributes to the tangential migration of GABAergic interneurons.69
147229182004Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.67
195872822009A triplet repeat expansion genetic mouse model of infantile spasms syndrome, Arx(GCG)10+7, with interneuronopathy, spasms in infancy, persistent seizures, and adult cognitive and behavioral impairment.64
121420612002Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX.51
176683842007A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome).46
205062062010ARX spectrum disorders: making inroads into the molecular pathology.42
176644012007Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus.35

Citation

Dessen P

ARX (aristaless related homeobox)

Atlas Genet Cytogenet Oncol Haematol. 2004-05-01

Online version: http://atlasgeneticsoncology.org/gene/121/arx