Species Human Entrez 170302 | Human Mouse Ensembl ENSG00000004848 | |
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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 | ||
Aristaless related homeobox is a protein that in humans is encoded by the ARX gene.
Contents
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.
Clinical significance
Mutation in the ARX gene are associated with X-linked intellectual disability, lissencephaly, as well as hypoglycemia (in mice).
References
Aristaless related homeobox Wikipedia(Text) CC BY-SA