IRX1

Chr 5

iroquois homeobox 1

Also known as: IRX-5, IRXA1

NCBI Gene: 79192 ENSG00000170549 UniProt: P78414

This gene encodes an Iroquois homeobox transcription factor that regulates embryonic pattern formation. Mutations cause autosomal dominant developmental delay, intellectual disability, and multiple congenital anomalies affecting craniofacial features, limbs, and other organ systems. The gene shows low constraint against loss-of-function variants, consistent with the dominant inheritance pattern observed in affected families.

ResearchSummary from RefSeq

This gene encodes a member of the Iroquois homeobox protein family. Homeobox genes in this family are involved in pattern formation in the embryo. The gene product has been identified as a tumor suppressor in gastric (PMID: 21602894, 20440264) and head and neck cancers (PMID: 18559491). A pseudogene of this gene is located on chromosome 13. [provided by RefSeq, Dec 2011]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.07

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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