homeobox protein ARX; Aristaless-related homeobox (ARX)

Function

• transcription factor required for normal brain development
• may be important for maintenance of specific neuronal subtypes in the cerebral cortex & axonal guidance in the floor plate

Structure

• belongs to the paired homeobox family, Bicoid subfamily
• contains 1 homeobox DNA-binding domain

Compartment

nucleus (putative)

Expression

• expressed predominantly in fetal & adult brain & skeletal muscle
• expression is specific to the telencephalon & ventral thalamus
• no expression in the cerebellum throughout development into adulthood

Pathology

• mutations associated with
  • X-linked lissencephaly with abnormal genitalia (XLAG)
  • X-linked infantile spasm syndrome (ISSX)
  • X-linked myoclonic epilepsy with intellectual disability & spasticity (XMEDS)
• defects in ARX are a cause of Partington syndrome
• defects in ARX are the cause of
  • mental retardation X-linked ARX-related
  • agenesis of the corpus callosum with abnormal genitalia

More general terms

• homeobox protein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=170302
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:170302
• OMIM: https://mirror.omim.org/entry/300004
• OMIM: https://mirror.omim.org/entry/300215
• OMIM: https://mirror.omim.org/entry/300382
• OMIM: https://mirror.omim.org/entry/300419
• OMIM: https://mirror.omim.org/entry/308350
• OMIM: https://mirror.omim.org/entry/309510
• UniProt: http://www.uniprot.org/uniprot/Q96QS3.html