Symbol
| LAMA5
| contributors: mct/npt - updated : 28-01-2015
|
HGNC name
| laminin, alpha 5
|
HGNC id
| 6485
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
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tumoral
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null expression in prostate carcinoma | constitutional
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| --other
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aberrantly expressed in the pericystic ECM of AD polycystic kidneys | constitutional
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| loss of function
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absence of functional LAMA5, leads to phenotype of Herlitz junctional epidermolysis bullosa (Schneider 2007) | |
Variant & Polymorphism
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Candidate gene
Marker
Therapy target
| | | |
| mutation of the mouse laminin alpha5 gene results in a variety of developmental defects, including defects in kidney structure and function |