VAX1

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]

Full Name

ventral anterior homeobox 1

Function

Transcription factor that may function in dorsoventral specification of the forebrain. Required for axon guidance and major tract formation in the developing forebrain. May contribute to the differentiation of the neuroretina, pigmented epithelium and optic stalk (By similarity).

Biological Process

Biological Process astrocyte differentiation Source:Ensembl
Biological Process axon guidance Source:Ensembl
Biological Process brain development Source:Ensembl
Biological Process camera-type eye development Source:Ensembl
Biological Process central nervous system development Source:GO_Central1 Publication
Biological Process negative regulation of neuroblast proliferation Source:Ensembl
Biological Process neuroblast proliferation Source:Ensembl
Biological Process neuroepithelial cell differentiation Source:Ensembl
Biological Process neuron differentiation Source:GO_Central1 Publication
Biological Process neuron migration Source:Ensembl
Biological Process regulation of transcription by RNA polymerase II Source:GO_Central1 Publication
Biological Process roof of mouth development Source:Ensembl
Biological Process skeletal muscle cell differentiation Source:Ensembl

Cellular Location

Nucleus

Involvement in disease

Microphthalmia, syndromic, 11 (MCOPS11):
A rare clinical entity including as main characteristics microphthalmia and small optic nerves, cleft lip and palate, absence of corpus callosum, hippocampal malformations, and absence of the pineal gland. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities.