VAX1 ventral anterior homeobox 1
Gene ID: 11023, updated on 17-Jun-2024Gene type: protein coding
Also known as: MCOPS11
- See all available tests in GTR for this gene
- Go to complete Gene record for VAX1
- Go to Variation Viewer for VAX1 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Anophthalmia-microphthalmia syndrome MedGen: C5680330GeneReviews: Not available | See labs |
| Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate. GeneReviews: Not available | |
| Microphthalmia, syndromic 11 | See labs |
Genomic context
- Location:
- 10q25.3
- Sequence:
- Chromosome: 10; NC_000010.11 (117128520..117138270, complement)
- Total number of exons:
- 5
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for VAX1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
- VAX1 @ LOVD
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