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) . ,
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