WNT1 Antibody – Rabbit Polyclonal

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

Chromosomal Location of Human Ortholog: 12q13

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

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

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

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