WNT1 Antibody – Mouse Monoclonal

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

Chromosomal Location of Human Ortholog: 12q13.12

Cellular Component: cytoplasm; endoplasmic reticulum lumen; extracellular region; extracellular space; Golgi lumen; plasma membrane

Molecular Function: cytokine activity; frizzled binding; morphogen activity; receptor agonist activity

Biological Process: cell fate commitment; cell-cell signaling; central nervous system morphogenesis; cerebellum formation; DNA damage response, signal transduction; embryonic axis specification; midbrain development; negative regulation of BMP signaling pathway; negative regulation of cell-cell adhesion; negative regulation of fat cell differentiation; 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 transcription factor activity; positive regulation of transcription, DNA-dependent; response to wounding; Spemann organizer formation; Wnt receptor signaling pathway; Wnt receptor signaling pathway through beta-catenin; Wnt receptor signaling pathway, planar cell polarity pathway

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