- Abstract:
-
The hyperparathyroidism-jaw tumor (HPT-JT) syndrome is an autosomal dominant disorder characterized by the occurrence of parathyroid tumors in association with ossifying fibromas of the maxilla and/or mandible. The gene responsible for HPT-JT, known as CDC73, was identified in 2002 and encodes a 531 amino acid protein known as parafibromin. Parafibromin is predominantly a nuclear protein that interacts directly with beta-catenin and also forms part of the RNA polymerase associated factor-1 co...
Expand abstract - Publication status:
- Published
- Publisher copy:
- 10.1002/humu.21188
-
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- Journal:
- Human mutation
- Volume:
- 31
- Issue:
- 3
- Pages:
- 295-307
- Publication date:
- 2010-03-05
- DOI:
- EISSN:
-
1098-1004
- ISSN:
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1059-7794
- URN:
-
uuid:6fa7398e-2633-45b1-ae79-795b827ea369
- Source identifiers:
-
35048
- Local pid:
- pubs:35048
- Copyright date:
- 2010
Journal article
Cell division cycle protein 73 homolog (CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumors.
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