HRPT2
HRPT2 maps to 1q25-q32 and encodes a novel protein of unknown function called parafibromin.
Pathology
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
References
Tan MH, Teh BT. Renal neoplasia in the hyperparathyroidism-jaw tumor syndrome. Curr Mol Med. 2004 Dec;4(8):895-7. PMID: #15579037#