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References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 30-11-2016 |
Symbol | HRPT2 |
Location | 1q31.2 |
Name | hyperparathyroidism 2 |
Other name(s) |
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Corresponding gene | CDC73 |
Other symbol(s) | HPTJT, FIHP, HRPT1 |
Main clinical features |
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Genetic determination | autosomal dominant |
Function/system disorder | kidney and urinary tract |
Type | disease |
Gene product |
Name | parafibromin |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| various types
|  
| abnormal protein/loss of function
| mutations identified predicted to truncate parafibromin upstream of or within the NLS disrupt nuclear localization
| |
Remark(s) |