Aristaless related homeobox

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

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).

See also

• homeobox

External links

• aristaless related homeobox protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.