LAMB2

Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Diseases associated with LAMB2 include Pierson Syndrome and Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities. Among its related pathways are ECM proteoglycans and miRNA targets in ECM and membrane receptors.

LAMB2

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.

Animal organ morphogenesisManual Assertion Based On ExperimentIBA:GO_Central
Astrocyte developmentIEA:Ensembl
Axon extension involved in regenerationIEA:Ensembl
Axon guidanceIEA:Ensembl
Basement membrane assemblyManual Assertion Based On ExperimentIBA:GO_Central
Cell migrationManual Assertion Based On ExperimentIBA:GO_Central
Metanephric glomerular basement membrane developmentIEA:Ensembl
Metanephric glomerular visceral epithelial cell developmentIEA:Ensembl
Neuromuscular junction developmentIEA:Ensembl
Retina development in camera-type eyeIEA:Ensembl
Schwann cell developmentIEA:Ensembl
Substrate adhesion-dependent cell spreadingManual Assertion Based On ExperimentIBA:GO_Central
Tissue developmentManual Assertion Based On ExperimentIBA:GO_Central
Visual perceptionIEA:Ensembl

Secreted, extracellular space, extracellular matrix, basement membrane
S-laminin is concentrated in the synaptic cleft of the neuromuscular junction.

Pierson syndrome (PIERSS):
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.
Nephrotic syndrome 5 with or without ocular abnormalities (NPHS5):
A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form and progress to end-stage renal failure. NPHS5 is characterized by very early onset of progressive renal failure. A subset of patients may develop mild ocular anomalies, such as myopia, nystagmus, and strabismus.