Proto-Oncogene Wnt-1 (WNT1) ELISA Kit for Human

The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It is very conserved in evolution, and the protein encoded by this gene is known to be 98% identical to the mouse Wnt1 protein at the amino acid level. The studies in mouse indicate that the Wnt1 protein functions in the induction of the mesencephalon and cerebellum. This gene was originally considered as a candidate gene for Joubert syndrome, an autosomal recessive disorder with cerebellar hypoplasia as a leading feature. However, further studies suggested that the gene mutations might not have a significant role in Joubert syndrome. This gene is clustered with another family member, WNT10B, in the chromosome 12q13 region. [provided by RefSeq, Jul 2008]

WNT1: Ligand for members of the frizzled family of seven transmembrane receptors. In some developmental processes, is also a ligand for the coreceptor RYK, thus triggering Wnt signaling. Probable developmental protein. May be a signaling molecule important in CNS development. Is likely to signal over only few cell diameters. Belongs to the Wnt family.

Protein type: Oncoprotein; Secreted; Cell development/differentiation; Secreted, signal peptide; Motility/polarity/chemotaxis

Chromosomal Location of Human Ortholog: 12q13

Cellular Component: cell surface; cytoplasm; endoplasmic reticulum lumen; extracellular region; extracellular space; Golgi lumen; plasma membrane; proteinaceous extracellular matrix

Molecular Function: cytokine activity; frizzled binding; protein domain specific binding; receptor agonist activity

Biological Process: cell fate commitment; cell proliferation in midbrain; cell-cell signaling; central nervous system morphogenesis; cerebellum formation; diencephalon development; DNA damage response, signal transduction; embryonic axis specification; forebrain anterior/posterior pattern formation; inner ear morphogenesis; midbrain development; midbrain-hindbrain boundary maturation during brain development; myoblast fusion; negative regulation of BMP signaling pathway; negative regulation of cell-cell adhesion; negative regulation of fat cell differentiation; negative regulation of transforming growth factor beta receptor signaling pathway; neuron development; neuron differentiation; neuron fate determination; organ regeneration; positive regulation of cell proliferation; positive regulation of fibroblast proliferation; positive regulation of insulin-like growth factor receptor signaling pathway; positive regulation of Notch signaling pathway; positive regulation of protein amino acid phosphorylation; positive regulation of transcription factor activity; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; response to wounding; Spemann organizer formation; spinal cord association neuron differentiation; T cell differentiation in the thymus; ubiquitin-dependent SMAD protein catabolic process; ureteric bud branching; Wnt receptor signaling pathway; Wnt receptor signaling pathway through beta-catenin

Disease: Bone Mineral Density Quantitative Trait Locus 16; Osteogenesis Imperfecta, Type Xv