Home > A. Molecular pathology > HRPT2
HRPT2
Tuesday 11 November 2003
HRPT2 maps to 1q25-q32 and encodes a novel protein of unknown function called parafibromin.
Pathology
HRPT2 germline mutations
- HRPT2 mutations in hyperparathyroidism-jaw tumor syndrome (HPT-JT syndrome) (12434154)
- HRPT2 mutations in 66% of apparently sporadic parathyroid carcinomas
- Rare germline mutation in HRPT2 in familial isolated hyperparathyroidism
Global loss of parafibromin staining are strong negative determinants of prognosis in parathyroid carcinoma. (21240254)
References
Downregulation of CASR expression and global loss of parafibromin staining are strong negative determinants of prognosis in parathyroid carcinoma. Witteveen JE, Hamdy NA, Dekkers OM, Kievit J, van Wezel T, Teh BT, Romijn JA, Morreau H. Mod Pathol. 2011 May;24(5):688-97. PMID: 21240254
Tan MH, Teh BT. Renal neoplasia in the hyperparathyroidism-jaw tumor syndrome. Curr Mol Med. 2004 Dec;4(8):895-7. PMID: 15579037
