Aristaless related homeobox

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
Gene ontology Molecular function • RNA polymerase II distal enhancer sequence-specific DNA binding • DNA binding • sequence-specific DNA binding • chromatin binding • transcriptional repressor activity, RNA polymerase II distal enhancer sequence-specific binding • RNA polymerase II transcription factor activity, 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 from RNA polymerase II promoter • globus pallidus development • transcription, DNA-templated • nervous system development • axon guidance • multicellular organism development • positive regulation of gene expression • regulation of cell 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 Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
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_001292869.1 NP_031518.2 NP_001292869 NP_031518
Location (UCSC)	Chr X: 25 – 25.02 Mb	Chr X: 93.29 – 93.3 Mb
PubMed search

170302

11878

ENSG00000004848

ENSMUSG00000035277

Q96QS3

O35085

NM_139058

NM_007492
NM_001305940

NP_620689

NP_001292869.1
NP_031518.2
NP_001292869
NP_031518

Aristaless related homeobox is a protein that in humans is encoded by the ARX gene.

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.

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

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