Anti-AGPS Antibody Picoband® Fluoro647 Conjugated

This gene is a member of the FAD-binding oxidoreductase/transferase type 4 family. It encodes a protein that catalyzes the second step of ether lipid biosynthesis in which acyl-dihydroxyacetonephosphate (DHAP) is converted to alkyl-DHAP by the addition of a long chain alcohol and the removal of a long-chain acid anion. The protein is localized to the inner aspect of the peroxisomal membrane and requires FAD as a cofactor. Mutations in this gene have been associated with rhizomelic chondrodysplasia punctata, type 3 and Zellweger syndrome.

In developing embryos, expressed mainly in the choroid plexus, paraventricular neuroepithelium, placenta and kidney glomeruli. Also found in bronchial epithelium, adrenal gland and in seminiferous tubules of testis. High expression of VEGF continues in kidney glomeruli and choroid plexus in adults.

Ligand for members of the frizzled family of seven transmembrane receptors (Probable) . Functions in the canonical Wnt/beta-catenin signaling pathway. Plays a role in normal ectoderm development. Required for normal tooth development. Required for normal postnatal development and maintenance of tongue papillae and sweat ducts. Required for normal proliferation of basal cells in tongue filiform papillae, plantar epithelium and sweat ducts. Required for normal expression of keratins in tongue papillae. Required for normal expression of KRT9 in foot plant epithelium. Required for normal hair follicle function.

1. de Vet, E. C. J. M., IJlst, L., Oostheim, W., Wanders, R. J. A., van den Bosch, H. Alkyl-dihydroxyacetonephosphate synthase: fate in peroxisome biogenesis disorders and identification of the point mutation underlying a single enzyme deficiency. J. Biol. Chem. 273: 10296-10301, 1998. 2. de Vet, E. C. J. M., Prinsen, H. C. M. T., van den Bosch, H. Nucleotide sequence of a cDNA clone encoding a Caenorhabditis elegans homolog of mammalian alkyl-dihydroxyacetonephosphate synthase: evolutionary switching of peroxisomal targeting signals. Biochem. Biophys. Res. Commun. 242: 277-281, 1998. 3. de Vet, E. C. J. M., van den Broek, B. T. E., van den Bosch, H. Nucleotide sequence of human alkyl-dihydroxyacetonephosphate synthase cDNA reveals the presence of a peroxisomal targeting signal 2. Biochim. Biophys. Acta 1346: 25-29, 1997.