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VAX1 encodes a homeo-domain containing protein from a class of homeobox transcription factors which are conserved in vertebrates.
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Cow (Bovine) Polyclonal VAX1 Primary Antibody pour WB - ABIN2775832
Holland, Booth, Bruford: Classification and nomenclature of all human homeobox genes. dans BMC biology 2008
rs4752028 weakly associated with nonsyndromic cleft lip with or without cleft palate in northern Chinese Han population
Our study replicated previous GWAS findings for markers in VAX1 in the Asian population, and identified rare variants in PAX7 (Montrer PAX7 Anticorps) and VAX1 that may contribute to the etiology of CL(P).
VAX1 rs10787760, rs6585429 and rs1871345 polymorphisms may be involved in nonsyndromic cleft lip with or without cleft palate in Brazilian patients, but there is no association with polymorphisms in FGF12 (Montrer FGF12 Anticorps), VCL (Montrer VCL Anticorps), or CX43 (Montrer GJA1 Anticorps)
The data do not support the hypothesis that highly penetrant rare variants in VAX1 are a cause of nonsyndromic cleft lip with or without cleft palate.
This is the first description of a patient with a VAX1 mutation and establishes VAX1 as a new causative gene for anophthalmia/microphthalmia (A/M) in humans.
vax1 and vax2 (Montrer VAX2 Anticorps) are expressed in overlapping domains encompassing the ventral retina, optic stalks and preoptic area; Hh signals act downstream of the Nodal pathway to promote Vax gene expression.
Despite significant associations between VAX1 and human forms of CLP, we find no evidence of a direct role for this transcription factor in development of this region in a mutant mouse model.
In this study, we investigate the mechanism by which VAX1 controls fertility finding that VAX1 is required for maintenance of Gnrh1 gene expression and deletion of Vax1 from GnRH neurons leads to complete infertility.
Vax1 possesses a novel retinal ganglion cell axon growth factor activity.
Vax1 Heterozygous subfertility originates in the hypothalamus by disrupting the hypothalamic-pituitary-gonadal axis. In addition, male subfertility may also be due to an unknown effect of Vax1 in the testis.
Vax1 and Vax2 (Montrer VAX2 Anticorps) genes counteract Mitf (Montrer MITF Anticorps)-induced respecification of the retinal pigment epithelium.
the absence of Vax1 causes the rostral oral ectoderm to form an ectopic fold that eventually develops into a separate second pituitary with all the pituitary cell types and neuronal fibers characteristic of the normal pituitary
Vax1 has a role in basal ganglia subventricular zone development
These data indicate that Vax1 is a potent regulator of subventricular zone organization and neural stem cell proliferation, with important consequences on postnatal neurogenesis.
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.
ventral anterior homeobox containing gene 1
, homeobox protein
, ventral anterior homeobox 1a
, ventral anterior homeobox 1