Aristaless related homeobox
Protein-coding gene in humans
From Wikipedia, the free encyclopedia
Aristaless related homeobox is a protein that in humans is encoded by the ARX gene.[5]
AliasesARX, CT121, EIEE1, ISSX, MRX29, MRX32, MRX33, MRX36, MRX38, MRX43, MRX54, MRX76, MRX87, MRXS1, PRTS, aristaless related homeobox
External IDsOMIM: 300382; MGI: 1097716; HomoloGene: 68998; GeneCards: ARX; OMA:ARX - orthologs
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]
