Laminin-Untereinheit alpha-5
Das LAMA5-gen kodiert eine Untereinheit des Laminins, einem wichtigen Bestandteil der Basalmembranen. Mutationen sind im Zusammenhang mit der FSGS beschrieben.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Ma GC et al. (2008) A recurrent ITGA9 missense mutation in human fetuses with severe chylothorax: possible correlation with poor response to fetal therapy.
|
2. |
Secolin R et al. (2013) Refinement of chromosome 3p22.3 region and identification of a susceptibility gene for bipolar affective disorder.
|
3. |
Miner JH et al. (1995) Molecular cloning of a novel laminin chain, alpha 5, and widespread expression in adult mouse tissues.
|
4. |
Durkin ME et al. (1997) Tissue-specific expression of the human laminin alpha5-chain, and mapping of the gene to human chromosome 20q13.2-13.3 and to distal mouse chromosome 2 near the locus for the ragged (Ra) mutation.
|
5. |
Nagase T et al. (1998) Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.
|
6. |
Nagase T et al. (2001) Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins.
|
7. |
Li J et al. (2003) Laminin-10 is crucial for hair morphogenesis.
|
8. |
Gao J et al. (2008) Laminin-511 is an epithelial message promoting dermal papilla development and function during early hair morphogenesis.
|
9. |
Wu C et al. (2009) Endothelial basement membrane laminin alpha5 selectively inhibits T lymphocyte extravasation into the brain.
|
10. |
Orphanet article
Orphanet ID 470582
|
11. |
NCBI article
NCBI 3911
|
12. |
OMIM.ORG article
Omim 601033
|
Update: 14. August 2020