VAX1 Chromosome 10
Ventral anterior homeobox 1
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What This Gene Does
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]
Gene Info
Gene Group
NKL subclass homeoboxes and pseudogenes
Locus Type
gene with protein product
Location
10q25.3
Ensembl
ENSG00000148704
Associated Conditions (3)
Microphthalmia
syndromic 11
VAX1-related disorder
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS554140675 | Health Risk | Conflicting classifications of pathogenicity | Microphthalmia, syndromic 11, VAX1-related disorder |
| RS2493443432 | Health Risk | Likely pathogenic | Microphthalmia, Microphthalmia |
| RS387907252 | Health Risk | Pathogenic | Microphthalmia, syndromic 11, Microphthalmia |