IRX5 Antibody – Mouse Monoclonal

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]

IRX5: 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. 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. Defects in IRX5 are the cause of Hamamy syndrome (HMMS). A sydrome characterized by severe hypertelorism, upslanting palpebral fissures, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, and osteopenia with repeated fractures. Additional features include myopia, mild to moderate sensorineural hearing loss, gonadal anomalies, and borderline intelligence. Belongs to the TALE/IRO homeobox family.

Protein type: DNA-binding

Chromosomal Location of Human Ortholog: 16q12.2

Cellular Component: nucleus

Molecular Function: vitamin D binding; sequence-specific DNA binding

Biological Process: gonad development; visual perception; regulation of transcription, DNA-dependent; transcription, DNA-dependent; regulation of heart rate; response to stimulus; embryonic cranial skeleton morphogenesis; neuron maturation; retinal bipolar neuron differentiation

Disease: Hamamy Syndrome