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.
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.
Laminins have important functions in cellular differentiation and adhesion. Laminin-11 is an essential component of the glomerular basement membrane.
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 |
1. |
Zenker M et al. (2004) Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities. |
2. |
None (2006) The glomerular basement membrane: not gone, just forgotten. |
3. |
Hasselbacher K et al. (2006) Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders. |
4. |
Glastre C et al. (1990) Familial infantile nephrotic syndrome with ocular abnormalities. |
5. |
OMIM.ORG article Omim 150325 |
6. |
Orphanet article Orphanet ID 122971 |
7. |
NCBI article NCBI 3913 |
8. |
Wikipedia article Wikipedia EN (Laminin,_beta_2) |