RAX gene

retina and anterior neural fold homeobox

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Microphthalmia, isolated 3

From UniProt:

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. [MIM:611038]

Cytogenetic Location: 18q21.32, which is the long (q) arm of chromosome 18 at position 21.32

Molecular Location: base pairs 59,267,035 to 59,273,393 on chromosome 18 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 18q21.32, which is the long (q) arm of chromosome 18 at position 21.32
  • MCOP3
  • RX