Aristaless related homeobox

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Aristaless related homeobox (ARX) gene

ARX encodes a protein called aristaless related homeobox, a developmental gene with two main parts: a C-terminal aristaless domain and a prd-like homeobox domain. This protein binds DNA and helps regulate other genes, guiding the development of the nervous system and the pancreas. It belongs to the group-II aristaless-related protein family and is mainly active in the brain and other parts of the nervous system.

Location
In humans, ARX is located on the X chromosome (Xp21.3). In mice, it is also on the X chromosome.

Function
ARX acts as a transcription factor, turning specific genes on or off during development. It influences how nerve cells migrate and how brain regions form, as well as the development of other organs.

Expression
ARX is expressed during development, with high activity in the nervous system. It is also present in other tissues as development proceeds.

Clinical relevance
Mutations in ARX are linked to X-linked intellectual disability and lissencephaly, a brain malformation. In mouse studies, ARX mutations can cause hypoglycemia, highlighting a role in pancreas development as well.