Ventral Anterior Homeobox 1 Proteins (VAX1)

Human Ventral Anterior Homeobox 1 (VAX1) interaction partners

1. rs4752028 weakly associated with nonsyndromic cleft lip with or without cleft palate in northern Chinese Han population

2. Our study replicated previous GWAS findings for markers in VAX1 in the Asian population, and identified rare variants in PAX7 (show PAX7 Proteins) and VAX1 that may contribute to the etiology of CL(P).

3. 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 (show FGF12 Proteins), VCL (show VCL Proteins), or CX43 (show GJA1 Proteins)

4. 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.

5. 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.

Zebrafish Ventral Anterior Homeobox 1 (VAX1) interaction partners

1. vax1 and vax2 (show VAX2 Proteins) 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.

Mouse (Murine) Ventral Anterior Homeobox 1 (VAX1) interaction partners

1. 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.

2. 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.

3. Vax1 possesses a novel retinal ganglion cell axon growth factor activity.

4. 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.

5. Vax1 and Vax2 (show VAX2 Proteins) genes counteract Mitf (show MITF Proteins)-induced respecification of the retinal pigment epithelium.

6. 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

7. Vax1 has a role in basal ganglia subventricular zone development

8. These data indicate that Vax1 is a potent regulator of subventricular zone organization and neural stem cell proliferation, with important consequences on postnatal neurogenesis.