HomeGeneticsGeneCDC73 gene
Back to Gene
CDC73 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

CDC73 gene

The CDC73 gene provides instructions for making parafibromin, a protein that functions as a tumor suppressor.

Normal Function

The CDC73 gene provides instructions for making a protein called parafibromin. This protein is found primarily in the nucleus of cells and is likely involved in regulating gene transcription, which is the first step in protein production. Parafibromin functions as a tumor suppressor, which means it keeps cells from growing and dividing (proliferating) too fast or in an uncontrolled way. When parafibromin is found outside the nucleus, it appears to be involved in the organization of the cell's structural framework (the cytoskeleton).

Health Conditions Related to Genetic Changes

Familial isolated hyperparathyroidism

Variants (also called mutations) in the CDC73 gene have been found in some people with familial isolated hyperparathyroidism, a condition that is characterized by overactive parathyroid glands (hyperparathyroidism). These four glands are located in the neck and release a hormone that helps regulate the levels of calcium in the blood. This regulation is disrupted in people with familial isolated hyperparathyroidism, which can lead to high levels of calcium in the blood (hypercalcemia), kidney stones, thinning of the bones (osteoporosis), nausea, vomiting, high blood pressure (hypertension), weakness, and fatigue.

The CDC73 gene variants that cause familial isolated hyperparathyroidism reduce the activity of the parafibromin protein. This can increase cell proliferation, causing one or more of the parathyroid glands to become enlarged (hyperplasia) or to develop a tumor. Parathyroid tumors in people with familial isolated hyperparathyroidism are usually noncancerous (benign) tumors called adenomas.

Hyperparathyroidism-jaw tumor syndrome

Variants in the CDC73 gene have been found to cause hyperparathyroidism-jaw tumor syndrome, which is a condition that is characterized by parathyroid tumors that cause hyperparathyroidism. People with this condition have an increased risk of benign tumors in the jaw, kidneys, and uterus. Most of the CDC73 gene variants that are associated with this condition cause cells to produce a version of the parafibromin protein that is abnormally short and does not function properly. Without functional parafibromin, cell proliferation is not properly regulated, which can cause tumors to form in the parathyroid glands.

Parathyroid cancer

Variants in the CDC73 gene are found in up to 70 percent of people with parathyroid cancer. A variant must occur in both copies of the CDC73 gene for parathyroid cancer to develop. Parathyroid cells with two altered copies of the CDC73 gene produce no functional parafibromin. As a result, the cells grow and divide unchecked, which can lead to parathyroid cancer.

Other Names for This Gene

  • C1orf28
  • CDC73_HUMAN
  • cell division cycle protein 73 homolog
  • HRPT2
  • hyperparathyroidism 2 protein
  • hyrax
  • HYX
  • parafibromin

Frequently Asked Questions

If a close relative (parent, sibling, or child) has been diagnosed with familial isolated hyperparathyroidism or hyperparathyroidism‑jaw tumor syndrome, a targeted CDC73 test is recommended. Testing can confirm whether you carry a pathogenic variant, guide surveillance for calcium abnormalities, and inform testing of other family members. Discuss the test with an endocrinologist or genetic counselor who can explain the benefits, limitations, and insurance coverage.
Pathogenic CDC73 variants increase the risk of developing parathyroid adenomas and, in hyperparathyroidism‑jaw tumor syndrome, also raise the likelihood of ossifying jaw tumors and, less commonly, renal or uterine tumors. The overall risk of malignant cancer remains low, but regular imaging (jaw X‑ray or CT) and renal ultrasound are advised every 1–2 years to catch benign tumors early.
CDC73 follows an autosomal‑dominant inheritance pattern, so each child of an affected parent has a 50 % chance of inheriting the variant. Pediatric screening typically begins at age 8–10 years with serum calcium and PTH measurements, followed by annual checks. If abnormalities appear, imaging of the neck and jaw is performed. Early detection allows timely intervention before complications like kidney stones develop.
When a CDC73 mutation is present, surgeons often recommend a more extensive parathyroid exploration because multiple glands may be hyperplastic rather than a single adenoma. Minimally invasive focused surgery may be insufficient. Additionally, lifelong monitoring of calcium, PTH, kidney function, and bone density is essential, even after successful surgery, because new gland growth can occur.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

kontakt@hittavard.se

Ⓒ 2024. Alla rättigheter förbehålls av juxt ab

Sök
Om ossVillkor och policyVanliga frågorKontakta oss