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RAX
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]
Protein class
Disease related genes, Human disease related genes, Transcription factors
Predicted location
Intracellular
Single cell type specificity
Cell type enriched (Muller glia cells)
Immune cell specificity
Not detected in immune cells
Cell line specificity
Cell line enhanced (HMC-1, SH-SY5Y)
Molecular function
Developmental protein, DNA-binding
More Types Infomation
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- Species Reactivity: Human
- Application: WB
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For Research Use Only. Not For Clinical Use.