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References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 25-01-2016 |
Symbol | THBDD | |||||
Location | 20p11.2 | |||||
Name | thrombophilia due to thrombomodulin defect | |||||
Corresponding gene | THBD | |||||
Other symbol(s) | THRM | |||||
Main clinical features |
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Genetic determination
Related entries
| PROC, including Hemolytic uremic syndrome, atypical, susceptibility (OMIM 612926)
| Function/system disorder
| hematology | Type
| disease
| |
Gene product |
Name | thrombomodulin (THBD), a glycoprotein receptor. THBD converts thrombin in a physiologic anticoagulant through protein C activation |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| various types
|  
|  
| missence and frameshift
| other
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| dbSNP
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Remark(s) |