Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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

Related Diseases:

Congenital nephrotic syndrome type 05 (Pierson syndrome)
LAMB2

References:

1.

Zenker M et al. (2004) Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities.

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2.

Farquhar MG et al. (2006) The glomerular basement membrane: not gone, just forgotten.

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3.

Hasselbacher K et al. (2006) Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders.

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4.

Glastre C et al. (1990) Familial infantile nephrotic syndrome with ocular abnormalities.

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Update: Sept. 26, 2018