Aliases for IRX5 Gene
External Ids for IRX5 Gene
Previous GeneCards Identifiers for IRX5 Gene
This gene encodes a member of the iroquois homeobox gene family, which are involved in several embryonic developmental processes. Knockout mice lacking this gene show that it is required for retinal cone bipolar cell differentiation, and that it negatively regulates potassium channel gene expression in the heart to ensure coordinated cardiac repolarization. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
GeneCards Summary for IRX5 Gene
IRX5 (Iroquois Homeobox 5) is a Protein Coding gene. Diseases associated with IRX5 include Hamamy Syndrome and Griscelli Syndrome, Type 3. Among its related pathways are FTO Obesity Variant Mechanism and Preimplantation Embryo. GO annotations related to this gene include sequence-specific DNA binding and vitamin D binding. An important paralog of this gene is IRX2.
UniProtKB/Swiss-Prot for IRX5 Gene
Establishes the cardiac repolarization gradient by its repressive actions on the KCND2 potassium-channel gene. Required for retinal cone bipolar cell differentiation. May regulate contrast adaptation in the retina and control specific aspects of visual function in circuits of the mammalian retina (By similarity). Could be involved in the regulation of both the cell cycle and apoptosis in prostate cancer cells. Involved in craniofacial and gonadal development. Modulates the migration of progenitor cell populations in branchial arches and gonads by repressing CXCL12.