ALX3 Antibody

1. Genome scan using 250k Nsp1 array followed by exome and Sanger sequence analysis revealed a novel homozygous nonsense variant (c.604C>T, p.Gln202*) in the ALX3 gene resulting in frontorhiny in the family. This is the first mutation in the ALX3 gene, underlying frontorhiny, in Pakistani population. PMID: 29215096
2. Exclusion of mutations in ALX3 gene in patients with the syndrome of frontonasal dysgenesis, callosal agenesis, basal encephalocele, and eye anomalies PMID: 22496059
3. We report a novel Y214X mutation in ALX3 in frontorhiny. PMID: 22106187
4. 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. PMID: 11807986
5. Alx3 participates in the regulation of insulin gene expression in pancreatic beta-cells. PMID: 16825292
6. ALX3 is essential for normal facial development in humans and that deficiency causes a clinically recognizable phenotype, which we term frontorhiny. PMID: 19409524
7. 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. PMID: 15226305
8. Chromatin immunoprecipitation assays indicated that Alx3 in mouse pancreatic islets occupies the promoter of the mouse insulin genes. PMID: 16825292

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HGNC: 449

OMIM: 136760

KEGG: hsa:257

STRING: 9606.ENSP00000358807

UniGene: Hs.669953