Exclusion of mutations in ALX3 gene in patients with the syndrome of frontonasal dysgenesis, callosal agenesis, basal encephalocele, and eye anomalies
We report a novel Y214X mutation in ALX3 in frontorhiny.
The lack of a chromosome 1-derived fragment of ALX3 in restriction landmark genomic scanning and virtual genome scans of neuroblastomas is attributable to hypermethylation.
Chromatin immunoprecipitation assays indicated that Alx3 in mouse pancreatic islets occupies the promoter of the mouse insulin (Montrer INS Kits ELISA) genes.
ALX3 is essential for normal facial development in humans and that deficiency causes a clinically recognizable phenotype, which we term frontorhiny.
Rat Alx3 undergoes restrictive or permissive interactions with nuclear proteins that determine its binding to and transactivation from TAAT target sites selected in a cell-specific manner.
results indicate that Alx3 expression is enhanced by BMP-2 (Montrer BMP2 Kits ELISA) via the BMP receptors mediated-Smad (Montrer SMAD1 Kits ELISA) signaling and that Alx3 is a positive regulator of osteoblast differentiation induced by BMP-2 (Montrer BMP2 Kits ELISA)
Glucose-stimulated expression of ALX3 in alpha cells provides a regulatory mechanism for the downregulation of glucagon (Montrer GCG Kits ELISA) gene expression by interfering with PAX6 (Montrer PAX6 Kits ELISA)-mediated transactivation on the glucagon (Montrer GCG Kits ELISA) G1 promoter element.
Pdx1 (Montrer PDX1 Kits ELISA), USF1 (Montrer USF1 Kits ELISA) and USF2 (Montrer USF2 Kits ELISA) co-ordinately regulate Alx3 gene expression in pancreatic beta-cells.
Alx3 promoter activity in mesenchymal and pancreatic cells is regulatd by USF transcription factors and Twist1 (Montrer TWIST1 Kits ELISA)
ALX3 could be considered as a candidate gene for the etiopathogenesis of diabetes or its complications during embryonic or fetal development is discussed
ALX3 participates in the regulation of the expression of essential genes for the function of pancreatic islets, and its deficiency alters the regulation of glucose homeostasis in vivo.
Alx3-deficient mice exhibit folic acid-resistant craniofacial midline and neural tube closure defects.
This gene encodes a nuclear protein with a homeobox DNA-binding domain that functions as a transcriptional regulator involved in cell-type differentiation and development. Preferential methylation of this gene's promoter is associated with advanced-stage neuroblastoma tumors.
ALX homeobox 3 , aristaless-like homeobox 3 , homeobox protein aristaless-like 3 , proline-rich transcription factor ALX3 , aristaless 3 , proline-rich transcription factor Alx3
GENE ID | SPECIES |
---|---|
469416 | Pan troglodytes |
522085 | Bos taurus |
700927 | Macaca mulatta |
257 | Homo sapiens |
365900 | Rattus norvegicus |
11694 | Mus musculus |