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GENATLAS PHENOTYPE |
last update : 11-01-2010 |
Symbol | BLAU |
Location | 16q12.1 |
Name | Blau syndrome |
Other name(s) |
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Corresponding gene | NOD2 |
Other symbol(s) | SGUN, ACGUG, ACUG |
Main clinical features |
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Genetic determination | autosomal dominant |
Function/system disorder | defense and immunity |
Type | disease |
Gene product |
Name | NOD2, missense mutations in the nucleotide-binding domain |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| missense
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| changes in specific positions ot the NBD named NACHT
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Remark(s) |