Aristaless related homeobox

Aristaless related homeobox is a protein that in humans is encoded by the ARX gene.^[5]

ARX
Identifiers
Aliases	ARX, CT121, EIEE1, ISSX, MRX29, MRX32, MRX33, MRX36, MRX38, MRX43, MRX54, MRX76, MRX87, MRXS1, PRTS, aristaless related homeobox
External IDs	OMIM: 300382; MGI: 1097716; HomoloGene: 68998; GeneCards: ARX; OMA:ARX - orthologs
Gene location (Human) Chr. X chromosome (human)[1] Band Xp21.3 Start 25,003,694 bp[1] End 25,016,420 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X C3|X 41.05 cM Start 92,330,051 bp[2] End 92,341,963 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in left ovary right ovary ventricular zone vastus lateralis muscle germinal epithelium endothelial cell bronchial epithelial cell Brodmann area 23 biceps brachii cingulate gyrus Top expressed in Rostral migratory stream medial ganglionic eminence Gonadal ridge ventricular zone olfactory bulb uterine tube temporal muscle nucleus accumbens efferent ductule ovary More reference expression data BioGPS More reference expression data
Gene ontology Molecular function RNA polymerase II cis-regulatory region sequence-specific DNA binding DNA binding sequence-specific DNA binding chromatin binding DNA-binding transcription repressor activity, RNA polymerase II-specific DNA-binding transcription factor activity, RNA polymerase II-specific RNA polymerase II transcription regulatory region sequence-specific DNA binding Cellular component nucleus Biological process cell differentiation regulation of transcription, DNA-templated cerebral cortex tangential migration lipid digestion positive regulation of organ growth neuron migration negative regulation of transcription by RNA polymerase II globus pallidus development transcription, DNA-templated nervous system development axon guidance multicellular organism development positive regulation of gene expression regulation of cell population proliferation epithelial cell fate commitment embryonic olfactory bulb interneuron precursor migration cerebral cortex GABAergic interneuron migration forebrain development olfactory bulb development cell proliferation in forebrain neuron development Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 170302 11878 Ensembl ENSG00000004848 ENSMUSG00000035277 UniProt Q96QS3 O35085 RefSeq (mRNA) NM_139058 NM_007492 NM_001305940 RefSeq (protein) NP_620689 NP_001292869 NP_031518 Location (UCSC) Chr X: 25 – 25.02 Mb Chr X: 92.33 – 92.34 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Function

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 involved in CNS and pancreas development.^[5]

Clinical significance

Mutation in the ARX gene are associated with X-linked intellectual disability, lissencephaly, as well as hypoglycemia (in mice).^[5]

See also

• homeobox