Pax 6 (Sey)

A transcription factor involved in the regulation of eye and brain development

General Information

Pax 6 (Sey) proteins regulate transcription and are composed of two DNA binding motives, an N-terminal paired domain (PD) and a C-terminal homeodomain (HD).
Mutations or deletions in the Pax 6 gene cause severe defects in the development of the eye and the central nervous system (CNS). The Pax 6 mRNA is alternatively spliced at position 47 and is translated into two proteins of 46 and 48 kDa. The amino acid sequence and basic regulatory mechanisms of Pax 6 are conserved from invertebrates to mammals.