Gene: VAX1

Alternate names for this Gene: MCOPS11

Gene 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.

Gene is located in Chromosome: 10

Location in Chromosome : 10q25.3

Description of this Gene: ventral anterior homeobox 1

Type of Gene: protein-coding

rs6585429 in VAX1 gene and Cleft Palate PMID 28232668 2017 Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity.

rs6585429 in VAX1 gene and Cleft upper lip PMID 28232668 2017 Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity.

rs387907252 in VAX1 gene and MICROPHTHALMIA, SYNDROMIC 11 PMID 22095910 2012 VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: the first description of a VAX1 phenotype in humans.