paired box protein PAX6; oculorhombin; aniridia type II protein (PAX6, AN2)

Function

• transcription factor
• role in development of the eye, nose, central nervous system & pancreas
• required for differentiation of pancreatic islet alpha cells (putative)
• competes with PAX4 in binding to a common element in the glucagon, insulin & somatostatin promoters
• regulates specification of the ventral neuron subtypes by establishing the correct progenitor domains (putative).
• isoform 5a appears to function as a molecular switch that specifies target genes

Structure

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

Compartment

nucleus

Alternative splicing

named isoforms=3

Expression

• fetal eye, brain, spinal cord & olfactory epithelium
• isoform 5a is less abundant than the PAX6 shorter form
• expressed in the developing eye & brain

Pathology

• defects in PAX6 are the cause of
  • aniridia type 2
  • Peters anomaly
  • ectopia pupillae
  • foveal hypoplasia
  • autosomal dominant keratitis
  • ocular coloboma
  • coloboma of optic nerve
  • bilateral optic nerve hypoplasia

More general terms

• paired box protein (PAX)

Database

• UniProt: http://www.uniprot.org/uniprot/P26367.html
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:5080
• OMIM: https://mirror.omim.org/entry/106210
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=5080