VAX1

Chr 10

ventral anterior homeobox 1

Also known as: MCOPS11

NCBI Gene: 11023 ENSG00000148704 UniProt: Q5SQQ9

VAX1 encodes a homeobox transcription factor required for dorsoventral specification of the forebrain, axon guidance, and development of the visual system including the neuroretina and optic stalk. Biallelic mutations cause autosomal recessive microphthalmia, syndromic 11. The gene shows high constraint against loss-of-function variants (pLI 0.77, LOEUF 0.515), indicating intolerance to haploinsufficiency in the general population.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a homeo-domain containing protein from a class of homeobox transcription factors which are conserved in vertebrates. Genes of this family are involved in the regulation of body development and morphogenesis. The most conserved genes, called HOX genes are found in special gene clusters. This gene belongs to the VAX subfamily and lies in the vicinity of the EMX homeobox gene family. Another member of VAX family is located on chromosome 2. The encoded protein may play an important role in the development of anterior ventral forebrain and visual system. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMicrophthalmia, syndromic, 11

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.52

LOEUF

LOF

Mechanism· predicted

Some data sources returned errors (1)

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