IRX6

Chr 16

iroquois homeobox 6

Also known as: IRX-3, IRX7, IRXB3

NCBI Gene: 79190 ENSG00000159387 UniProt: P78412 OMIM: 606196

This transcription factor binds to specific DNA sequences to regulate gene expression and is required for the terminal differentiation of specific retinal bipolar cell types. Mutations cause autosomal recessive microphthalmia, anophthalmia, and coloboma spectrum disorders affecting eye development. The gene shows moderate constraint against loss-of-function variants.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable DNA-binding transcription activator activity, RNA polymerase II-specific; DNA-binding transcription repressor activity, RNA polymerase II-specific; and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in cell development; neuron differentiation; and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within detection of visible light; regulation of DNA-templated transcription; and retina morphogenesis in camera-type eye. Predicted to be located in chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.33

LOEUF

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Mechanism