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For Research Use Only. Not For Clinical Use.


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

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