信号通路： WNT;WNT-T CELLHedgehog;Melanogenesis;Pathways in cancer;Basal cell carcinoma;
功能： disease:Defects in WNT4 are a cause of Rokitansky-Kuster-Hauser syndrome (RKH syndrome) [MIM:277000]; 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.,disease:Defects in WNT4 are the cause of female sex reversal with dysgenesis of kidneys, adrenals, and lungs (SERKAL) [MIM:611812]; also known as SERKAL syndrome.,function:Ligand for members of the frizzled family of seven transmembrane receptors.,function: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 (By similarity). Overexpression may be associated with abnormal proliferation in human breast tissue.,similarity:Belongs to the Wnt family.,subunit:Interacts with PORCN.,
信号通路： WNT;WNT-T CELLHedgehog;Melanogenesis;Pathways in cancer;Basal cell carcinoma;
功能： disease:Defects in WNT4 are a cause of Rokitansky-Kuster-Hauser syndrome (RKH syndrome) [MIM:277000]; 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.,disease:Defects in WNT4 are the cause of female sex reversal with dysgenesis of kidneys, adrenals, and lungs (SERKAL) [MIM:611812]; also known as SERKAL syndrome.,function:Ligand for members of the frizzled family of seven transmembrane receptors.,function: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 (By similarity). Overexpression may be associated with abnormal proliferation in human breast tissue.,similarity:Belongs to the Wnt family.,subunit:Interacts with PORCN.,
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