Aliases for RAX Gene
External Ids for RAX Gene
Previous GeneCards Identifiers for RAX Gene
This gene encodes a homeobox-containing transcription factor that functions in eye development. The gene is expressed early in the eye primordia, and is required for retinal cell fate determination and also regulates stem cell proliferation. Mutations in this gene have been reported in patients with defects in ocular development, including microphthalmia, anophthalmia, and coloboma.[provided by RefSeq, Oct 2009]
GeneCards Summary for RAX Gene
RAX (Retina And Anterior Neural Fold Homeobox) is a Protein Coding gene. Diseases associated with RAX include Microphthalmia, Isolated 3 and Dystonia 16. GO annotations related to this gene include RNA polymerase II core promoter proximal region sequence-specific DNA binding and transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding. An important paralog of this gene is ARX.
UniProtKB/Swiss-Prot for RAX Gene
Plays a critical role in eye formation by regulating the initial specification of retinal cells and/or their subsequent proliferation. Binds to the photoreceptor conserved element-I (PCE-1/Ret 1) in the photoreceptor cell-specific arrestin promoter.