HRPT2, a Tumor Suppressor Gene for Hyperparathyroidism-Jaw Tumor Syndrome

Abstract

Hyperparathyroidism-jaw tumor (HPT-JT) syndrome is a familial multi-tumor syndrome resulting from inactivating mutations in the HRPT2 tumor suppressor gene, which encodes a protein product named parafibromin. Here, we will review recent advances in genetic and protein studies on parafibromin, and examine its biological functions.

Key words

Hyperparathyroidism-jaw tumor syndrome - HRPT2 - Parafibromin - Parathyroid carcinoma

References

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