CDC73

The CDC73 gene (also known as the HRPT2 gene) provides instructions for making a protein called parafibromin. This protein is primarily found in the nucleus of cells and is likely involved in regulating gene transcription, which is the first step in protein production. Parafibromin is also thought to play a role in cell growth and division (proliferation), either promoting or inhibiting cell proliferation depending on signals within the cell. When parafibromin is found outside the nucleus, it appears to be involved in the organization of the cell's structural framework (the cytoskeleton).

hyperparathyroidism-jaw tumor syndrome - caused by mutations in the CDC73 gene

More than 40 mutations in the CDC73 gene have been found to cause hyperparathyroidism-jaw tumor syndrome. Most of these mutations result in a parafibromin protein that is abnormally short and nonfunctional. Without functional parafibromin, cell proliferation is not properly regulated. Uncontrolled cell division can lead to the formation of tumors in the parathyroid glands, uterus, jaw, and kidneys in people with hyperparathyroidism-jaw tumor syndrome. Parathyroid tumors interfere with the gland's normal function and lead to overproduction of parathyroid hormone (hyperparathyroidism), a characteristic feature of hyperparathyroidism-jaw tumor syndrome.

cancers - associated with the CDC73 gene

Some gene mutations are acquired during a person's lifetime and are present only in certain cells. These changes, which are called somatic mutations, are not inherited. Somatic changes in the CDC73 gene have been identified in some parathyroid cancers. These mutations prevent parafibromin from effectively regulating cell proliferation, leading to uncontrolled cell growth and tumor development.

other disorders - caused by mutations in the CDC73 gene

Inherited mutations in the CDC73 have been found in families with multiple relatives who have hyperparathyroidism. This condition disrupts the normal balance of calcium in the blood, which can lead to kidney stones, thinning of the bones (osteoporosis), nausea, vomiting, high blood pressure (hypertension), weakness, and fatigue. Although hyperparathyroidism is a characteristic feature of hyperparathyroidism-jaw tumor syndrome, some individuals with CDC73 mutations do not have any other signs or symptoms of that condition. These mutations are thought to have a less severe effect on protein function than those that cause hyperparathyroidism-jaw tumor syndrome. A partially active parafibromin protein probably accounts for the milder signs and symptoms seen in people with hyperparathyroidism.