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Vax1

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Title: Vax1  
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Subject: Homeobox, NeuroD, EMX homeogene, Engrailed (gene), HOXC5
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Vax1

Ventral anterior homeobox 1
Identifiers
Symbols  ; MCOPS11
External IDs GeneCards:
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)
RefSeq (protein)
Location (UCSC)
PubMed search

Ventral anterior homeobox 1 is a protein that in humans is encoded by the VAX1 gene.[1][2][3]

Contents

  • Function 1
  • Clinical significance 2
  • References 3
  • Further reading 4
  • External links 5

Function

This gene appears to influence the development in humans of the forebrain. It is also present in mice and

External links

Further reading

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  4. ^ a b
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References

Genome Wide Association Studies (GWAS) reported significant associations between non-syndromic clefts and SNPs in the VAX1 gene.[8][9] Replication studies have confirmed these associations in different population groups[10][11]

Mice with homozygous VAX1 mutations have been reported to display craniofacial malformations including cleft palate.[7]

Clinical significance

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.[4][5][6]

[4]

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