LAMB2
Domain
The alpha-helical domains I and II are thought to interact with other laminin chains to form a coiled coil structure.
Domains VI and IV are globular.
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.
Involvement in disease
Pierson syndrome
PIERS
An autosomal recessive disorder characterized by nephrotic syndrome with neonatal onset, diffuse mesangial sclerosis, and eye abnormalities with microcoria and hypoplasia of the ciliary and pupillary muscles. Death usually occurs within the first weeks of life. Patients who survive tend to show neurodevelopmental delay and visual loss.
None
The disease is caused by variants affecting the gene represented in this entry.
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Cellular localization
- Secreted
- Extracellular space
- Extracellular matrix
- Basement membrane
- S-laminin is concentrated in the synaptic cleft of the neuromuscular junction.
Alternative names
LAMS, LAMB2, Laminin subunit beta-2, Laminin B1s chain, Laminin-11 subunit beta, Laminin-14 subunit beta, Laminin-15 subunit beta, Laminin-3 subunit beta, Laminin-4 subunit beta, Laminin-7 subunit beta, Laminin-9 subunit beta, S-laminin subunit beta, S-LAM beta