Home Page |
References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 29/11/2005 |
Symbol | JPS2 | |||||
Location | 10q23.31 | |||||
Name | juvenile polyposis syndrome | |||||
Corresponding gene | PTEN | |||||
Other symbol(s) | JPS, JIP | |||||
Main clinical features |
| |||||
Genetic determination
Related entries
| Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome
| Function/system disorder
| digestive tract/gastrointestinal | Type
| disease
| |
Gene product |
Name | protein tyrosine phosphatase (PTEN) |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| various types
|  
|  
| germline point mutations
| deletion
|  
|  
| large genomic deletions
| |
Remark(s) |