VAX1

Ventral anterior homeobox 1
Identifiers
Symbols	VAX1 ; MCOPS11
External IDs	OMIM: 604294 MGI: 1277163 HomoloGene: 7593 GeneCards: VAX1 Gene
Gene ontology Molecular function • RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding • transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding • chromatin DNA binding Cellular component • nucleus Biological process • negative regulation of transcription from RNA polymerase II promoter • neuron migration • transcription, DNA-templated • negative regulation of neuroblast proliferation • axon guidance • brain development • skeletal muscle cell differentiation • camera-type eye development • palate development Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	11023	22326
Ensembl	ENSG00000148704	ENSMUSG00000006270
UniProt	Q5SQQ9	Q2NKI2
RefSeq (mRNA)	NM_001112704	NM_009501
RefSeq (protein)	NP_001106175	NP_033527
Location (UCSC)	Chr 10: 117.13 – 117.14 Mb	Chr 19: 59.17 – 59.17 Mb
PubMed search	[1]	[2]

Ventral anterior homeobox 1 is a protein that in humans is encoded by the VAX1 gene.

Function

This gene appears to influence the development in humans of the forebrain. It is also present in mice and xenopus frogs, which suggests a long evolutionary history, and in those organisms its expression is confined to the forebrain, optic and olfactory areas.

VAX1 gene is a transcription factor that has a homeodomain located in the 100-159 amino acid position and an Ala–rich region located in 216-253 amino acid position of the gene. Expression studies in mice show that it is expressed in the palate, coloboma in the visual system, and the basal telencephalon, optic stalk, and visual eye fields where it is expressed along with the Shh and Bmp4 genes.

Clinical significance

Mice with homozygous VAX1 mutations have been reported to display craniofacial malformations including cleft palate.

Genome Wide Association Studies (GWAS) reported significant associations between non-syndromic clefts and SNPs in the VAX1 gene. Replication studies have confirmed these associations in different population groups

External links

• VAX1 human gene location in the UCSC Genome Browser.
• VAX1 human gene details in the UCSC Genome Browser.