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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