Ptpn11

Enables cell adhesion molecule binding activity; non-membrane spanning protein tyrosine phosphatase activity; and signaling receptor binding activity. Involved in several processes, including negative regulation of chondrocyte differentiation; positive regulation of cytokine production; and positive regulation of ossification. Acts upstream of or within several processes, including cell surface receptor signaling pathway; myeloid cell differentiation; and regulation of hormone secretion. Is active in cytosol. Is expressed in several structures, including alimentary system; brain; genitourinary system; hemolymphoid system gland; and liver and biliary system. Used to study several diseases, including Noonan syndrome 1; hepatocellular adenoma; idiopathic scoliosis; intrinsic cardiomyopathy (multiple); and juvenile myelomonocytic leukemia. Human ortholog(s) of this gene implicated in several diseases, including Noonan syndrome (multiple); Noonan syndrome with multiple lentigines 1; atrophic gastritis; juvenile myelomonocytic leukemia; and metachondromatosis. Orthologous to human PTPN11 (protein tyrosine phosphatase non-receptor type 11). [provided by Alliance of Genome Resources, Nov 2024]

此基因编码的蛋白质具有促进细胞粘附分子结合活性、非跨膜蛋白酪氨酸磷酸酶活性和信号受体结合活性的功能。参与多个生物学过程，包括软骨细胞分化的负向调控、细胞因子生产的正向调控以及成骨的正向调控。在细胞表面受体信号通路、髓系细胞分化和激素分泌调控等多个过程中发挥上游作用或处于其中。在细胞质中活性。在多个器官和组织中表达，包括消化系统、中枢神经系统、泌尿生殖系统、血淋巴系统腺体以及肝脏和胆道系统。被用于研究多种疾病，如 Noonan 综合征 1、肝细胞腺瘤、特发性脊柱侧弯、原发性心肌病（多例）以及青少年髓单核细胞性白血病。人类同源基因与多种疾病相关，包括多例 Noonan 综合征、多发性雀斑性 Noonan 综合征 1、萎缩性胃炎、青少年髓单核细胞性白血病和异位骨化症。与人类 PTPN11（非受体型蛋白酪氨酸磷酸酶 11）同源。[由基因组资源联盟提供，2024年11月]