Gene Symbol | RAX |
Entrez Gene ID | 30062 |
Full Name | retina and anterior neural fold homeobox |
Synonyms | MCOP3,RX |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Microphthalmia, isolated 3, 611038 (3) |