Ventral anterior homeobox 1 is a protein that in humans is encoded by the VAX1 gene. [5] [6] [7]
Ventral anterior homeobox 1 is a protein that in humans is encoded by the VAX1 gene. [5] [6] [7]
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. [8]
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. [8] [9] [10]
Mice with homozygous VAX1 mutations have been reported to display craniofacial malformations including cleft palate. [11]
Genome Wide Association Studies (GWAS) reported significant associations between non-syndromic clefts and SNPs in the VAX1 gene. [12] [13] Replication studies have confirmed these associations in different population groups [14] [15]
Interferon regulatory factor 6 also known as IRF6 is a protein that in humans is encoded by the IRF6 gene.
Protein patched homolog 1 is a protein that is the member of the patched family and in humans is encoded by the PTCH1 gene.
Homeobox protein Hox-A7 is a protein that in humans is encoded by the HOXA7 gene.
Homeobox protein SIX3 is a protein that in humans is encoded by the SIX3 gene.
Forkhead box protein E1 is a protein that in humans is encoded by the FOXE1 gene.
Homeobox protein engrailed-1 is a protein that in humans is encoded by the EN1 gene.
Homeobox protein DLX-2 is a protein that in humans is encoded by the DLX2 gene.
Secretoglobin family 3A member 2 is a protein that in humans is encoded by the SCGB3A2 gene.
Homeobox protein DLX-1 is a protein that in humans is encoded by the DLX1 gene.
Homeobox protein DLX-6 is a protein that in humans is encoded by the DLX6 gene.
Homeobox protein Nkx-2.3 is a protein that in humans is encoded by the NKX2-3 gene.
Homeobox protein EMX1 is a protein that in humans is encoded by the EMX1 gene. The transcribed EMX1 gene is a member of the EMX family of transcription factors. The EMX1 gene, along with its family members, are expressed in the developing cerebrum. EMX1 plays a role in specification of positional identity, the proliferation of neural stem cells, differentiation of layer-specific neuronal phenotypes and commitment to a neuronal or glial cell fate.
T-box transcription factor TBX22 is a protein that in humans is encoded by the TBX22 gene.
Homeobox protein goosecoid(GSC) is a homeobox protein that is encoded in humans by the GSC gene. Like other homeobox proteins, goosecoid functions as a transcription factor involved in morphogenesis. In Xenopus, GSC is thought to play a crucial role in the phenomenon of the Spemann-Mangold organizer. Through lineage tracing and timelapse microscopy, the effects of GSC on neighboring cell fates could be observed. In an experiment that injected cells with GSC and observed the effects of uninjected cells, GSC recruited neighboring uninjected cells in the dorsal blastopore lip of the Xenopus gastrula to form a twinned dorsal axis, suggesting that the goosecoid protein plays a role in the regulation and migration of cells during gastrulation.
Transcription factor LBX1 is a protein that in humans is encoded by the LBX1 gene.
Homeobox protein Hox-A2 is a protein that in humans is encoded by the HOXA2 gene.
Iroquois-class homeodomain protein IRX-3, also known as Iroquois homeobox protein 3, is a protein that in humans is encoded by the IRX3 gene.
Special AT-rich sequence-binding protein 2 (SATB2) also known as DNA-binding protein SATB2 is a protein that in humans is encoded by the SATB2 gene. SATB2 is a DNA-binding protein that specifically binds nuclear matrix attachment regions and is involved in transcriptional regulation and chromatin remodeling. SATB2 shows a restricted mode of expression and is expressed in certain cell nuclei. The SATB2 protein is mainly expressed in the epithelial cells of the colon and rectum, followed by the nuclei of neurons in the brain.
Short-stature homeobox 2, also known as homeobox protein Og12X or paired-related homeobox protein SHOT, is a protein that in humans is encoded by the SHOX2 gene.
Retinal homeobox protein Rx also known as retina and anterior neural fold homeobox is a protein that in humans is encoded by the RAX gene. The RAX gene is located on chromosome 18 in humans, mice, and rats.
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