Recombinant Human Homeobox protein ARX (ARX)

Uniprot Id

Q96QS3

Target Species

Human

Target Name

ARX

Target Full Name

Homeobox protein ARX

Target Function

Transcription factor required for normal brain development. May be important for maintenance of specific neuronal subtypes in the cerebral cortex and axonal guidance in the floor plate.

Target Involvement

Lissencephaly, X-linked 2 (LISX2); Epileptic encephalopathy, early infantile, 1 (EIEE1); Partington syndrome (PRTS); Mental retardation, X-linked, ARX-related (MRXARX); Agenesis of the corpus callosum, with abnormal genitalia (ACCAG)

Target Subcellular Location

Nucleus.

Target Protein Families

Paired homeobox family, Bicoid subfamily

Target Tissue Specificity

Expressed predominantly in fetal and adult brain and skeletal muscle. Expression is specific to the telencephalon and ventral thalamus. There is an absence of expression in the cerebellum throughout development and also in adult.

Target Synonyms

Aristaless related homeobox gene; Aristaless-related homeobox; Arx; ARX_HUMAN; Homeobox protein ARX; ISSX; MRX29; MRX32; MRX33; MRX36; MRX38; MRX43; MRX54; MRXS1; phox2a; PRTS

Target Background

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 thought to be involved in CNS development. Expansion of a polyalanine tract and other mutations in this gene cause X-linked cognitive disability and epilepsy.