信号通路: Focal adhesion;ECM-receptor interaction;Pathways in cancer;Small cell lung cancer;
功能: disease:Defects in LAMB2 are a cause of congenital nephrotic syndrome [MIM:609049]. Congenital nephrotic syndrome constitutes a heterogeneous group of conditions having in common the disruption of normal glomerular permselectivity. Congenital nephrotic syndrome due to LAMB2 mutations may be associated with ocular abnormalities.,disease:Defects in LAMB2 are the cause of Pierson syndrome [MIM:609049]; also known as microcoria-congenital nephrotic syndrome. Pierson syndrome is characterized by nephrotic syndrome with neonatal onset, diffuse mesangial sclerosis and eye abnormalities with microcoria as the leading clinical feature. Death usually occurs within the first weeks of life. Disease severity depends on the mutation type: nontruncating LAMB2 mutations may display variable phenotypes ranging from a milder variant of Pierson syndrome to isolated congenital nephrotic syndrome.,domain:Domains VI and IV are globular.,domain:The alpha-helical domains I and II are thought to interact with other laminin chains to form a coiled coil structure.,function:Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components.,similarity:Contains 1 laminin IV type B domain.,similarity:Contains 1 laminin N-terminal domain.,similarity:Contains 13 laminin EGF-like domains.,subcellular location:S-laminin is concentrated in the synaptic cleft of the neuromuscular junction.,subunit:Laminin is a complex glycoprotein, consisting of three different polypeptide chains (alpha, beta, gamma), which are bound to each other by disulfide bonds into a cross-shaped molecule comprising one long and three short arms with globules at each end. Beta-2 is a subunit of laminin-3 (S-laminin), laminin-4 (S-merosin), and laminin-7 (KS-laminin).,
相关产品: RS0001,RS0002,YM3028,YM3029
细胞定位: Secreted, extracellular space, extracellular matrix, basement membrane. S-laminin is concentrated in the synaptic cleft of the neuromuscular junction.
信号通路: Focal adhesion;ECM-receptor interaction;Pathways in cancer;Small cell lung cancer;
功能: disease:Defects in LAMB2 are a cause of congenital nephrotic syndrome [MIM:609049]. Congenital nephrotic syndrome constitutes a heterogeneous group of conditions having in common the disruption of normal glomerular permselectivity. Congenital nephrotic syndrome due to LAMB2 mutations may be associated with ocular abnormalities.,disease:Defects in LAMB2 are the cause of Pierson syndrome [MIM:609049]; also known as microcoria-congenital nephrotic syndrome. Pierson syndrome is characterized by nephrotic syndrome with neonatal onset, diffuse mesangial sclerosis and eye abnormalities with microcoria as the leading clinical feature. Death usually occurs within the first weeks of life. Disease severity depends on the mutation type: nontruncating LAMB2 mutations may display variable phenotypes ranging from a milder variant of Pierson syndrome to isolated congenital nephrotic syndrome.,domain:Domains VI and IV are globular.,domain:The alpha-helical domains I and II are thought to interact with other laminin chains to form a coiled coil structure.,function:Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components.,similarity:Contains 1 laminin IV type B domain.,similarity:Contains 1 laminin N-terminal domain.,similarity:Contains 13 laminin EGF-like domains.,subcellular location:S-laminin is concentrated in the synaptic cleft of the neuromuscular junction.,subunit:Laminin is a complex glycoprotein, consisting of three different polypeptide chains (alpha, beta, gamma), which are bound to each other by disulfide bonds into a cross-shaped molecule comprising one long and three short arms with globules at each end. Beta-2 is a subunit of laminin-3 (S-laminin), laminin-4 (S-merosin), and laminin-7 (KS-laminin).,
相关产品: RS0001,RS0002,YM3028,YM3029
细胞定位: Secreted, extracellular space, extracellular matrix, basement membrane. S-laminin is concentrated in the synaptic cleft of the neuromuscular junction.