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]

Retina And Anterior Neural Fold Homeobox

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.

Biological Process camera-type eye developmentIEA:Ensembl
Biological Process hypothalamus developmentIEA:Ensembl
Biological Process limb developmentIEA:Ensembl
Biological Process pattern specification processIEA:Ensembl
Biological Process positive regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIDA:NTNU_SB
Biological Process regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIBA:GO_Central
Biological Process visual perceptionManual Assertion Based On ExperimentTAS:ProtInc

Nucleus

Microphthalmia, isolated, 3 (MCOP3):
A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present.