Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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Laminin beta-2

Laminin beta-2 is an essential component of mature glomerular laminin, which is found in glomerular basement membrane. Homozygous mutations cause congenital nephrotic syndrome, Pierson syndrome.

Protein Structure

Laminins are large heterotrimer. Glomerular laminin changes its composition after birth. Fetal glomerular laminin, laminin-10, consists of (alpha-5:beta-1:gamma-1) and changes into (alpha-5:beta-2:gamma-1), called laminin-11. The component beta-2 that replaces beta-1 during maturation into laminin-11 is encoded by the LAMB2 gene.

Expression

Laminins have important functions in cellular differentiation and adhesion. Laminin-11 is an essential component of the glomerular basement membrane.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 20 days
Specimen type genomic DNA

Related Diseases:

Congenital nephrotic syndrome type 05 (Pierson syndrome)
LAMB2
Update:
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