Aliases for RAX2 Gene
External Ids for RAX2 Gene
Previous HGNC Symbols for RAX2 Gene
Previous GeneCards Identifiers for RAX2 Gene
This gene encodes a homeodomain-containing protein that plays a role in eye development. Mutation of this gene causes age-related macular degeneration type 6, an eye disorder resulting in accumulations of protein and lipid beneath the retinal pigment epithelium and within the Bruch's membrane. Defects in this gene can also cause cone-rod dystrophy type 11, a disease characterized by the initial degeneration of cone photoreceptor cells and resulting in loss of color vision and visual acuity, followed by the degeneration of rod photoreceptor cells, which progresses to night blindness and the loss of peripheral vision. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
GeneCards Summary for RAX2 Gene
RAX2 (Retina And Anterior Neural Fold Homeobox 2) is a Protein Coding gene. Diseases associated with RAX2 include Macular Degeneration, Age-Related, 6 and Cone-Rod Dystrophy 11. GO annotations related to this gene include sequence-specific DNA binding. An important paralog of this gene is RAX.
UniProtKB/Swiss-Prot for RAX2 Gene
May be involved in modulating the expression of photoreceptor specific genes. Binds to the Ret-1 and Bat-1 element within the rhodopsin promoter.