WNT4: Ligand for members of the frizzled family of seven transmembrane receptors. Probable developmental protein. May be a signaling molecule which affects the development of discrete regions of tissues. Is likely to signal over only few cell diameters. Overexpression may be associated with abnormal proliferation in human breast tissue. Defects in WNT4 are a cause of Rokitansky-Kuster-Hauser syndrome (RKH syndrome); also called Mayer- Rokitansky-Kuster-Hauser syndrome (MRKH syndrome or MRKH anomaly). RKH syndrome is characterized by utero-vaginal atresia in otherwise phenotypically normal female with a normal 46,XX karyotype. Anomalies of the genital tract range from upper vaginal atresia to total Muellerian agenesis with urinary tract abnormalities. It has an incidence of approximately 1 in 5'000 newborn girls. Defects in WNT4 are the cause of female sex reversal with dysgenesis of kidneys, adrenals, and lungs (SERKAL); also known as SERKAL syndrome. Defects in WNT4 are the cause of Muellerian aplasia (MULLAPL). Belongs to the Wnt family.
Protein type: Secreted; Secreted, signal peptide
Cellular Component: Golgi apparatus; proteinaceous extracellular matrix; extracellular space; cell surface; cytoplasm; extracellular region
Molecular Function: protein binding; frizzled binding; transcription corepressor activity; receptor binding
Biological Process: anatomical structure development; negative regulation of fibroblast growth factor receptor signaling pathway; positive regulation of transcription, DNA-dependent; multicellular organismal development; positive regulation of collagen biosynthetic process; T cell differentiation in the thymus; thyroid stimulating hormone secreting cell differentiation; androgen biosynthetic process; Wnt receptor signaling pathway through beta-catenin; signal transduction; somatotropin secreting cell differentiation; neuron differentiation; regulation of cell-cell adhesion; positive regulation of focal adhesion formation; cell-cell signaling; positive regulation of aldosterone biosynthetic process; positive regulation of stress fiber formation; embryonic epithelial tube formation; mesonephros development; cell differentiation; negative regulation of cell migration; female gonad development; cell fate commitment; Wnt receptor signaling pathway; positive regulation of meiosis; male gonad development; immature T cell proliferation in the thymus; cellular response to starvation; positive regulation of bone mineralization; positive regulation of osteoblast differentiation; negative regulation of cell differentiation; protein palmitoylation; branching morphogenesis of a tube; ureteric bud branching; gamete generation; hormone metabolic process; smooth muscle cell differentiation; female sex determination; tube morphogenesis; negative regulation of transcription, DNA-dependent; sex differentiation; metanephros development; oocyte development; positive regulation of GTPase activity
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