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TMEM127 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

TMEM127 gene

The TMEM127 gene acts as a tumor suppressor, helping to prevent uncontrolled cell growth by regulating specific signaling pathways.

Normal Function

The TMEM127 gene provides instructions for making a protein that functions as a tumor suppressor. This protein prevents cells from growing and dividing too quickly. It specifically controls a signaling pathway involved in cell growth and survival, which is regulated by a protein complex called mTORC1. The TMEM127 protein acts to inhibit this pathway, though its precise mechanism remains under investigation.

Health Conditions Related to Genetic Changes

Nonsyndromic paraganglioma

Mutations in the TMEM127 gene increase the risk of developing paraganglioma or pheochromocytoma, which are noncancerous tumors associated with the nervous system. These mutations are typically associated with nonsyndromic cases, meaning the tumors occur without other features of an inherited syndrome.

The development of these tumors often follows a two-step process:

  • Inherited mutation: An individual inherits a mutation that changes the TMEM127 protein sequence or results in a shortened protein.
  • Somatic mutation: During the person's lifetime, a second mutation occurs in the tumor cells that deletes the remaining normal copy of the gene.

The loss of both functional copies of the gene leads to an abnormally active cell growth pathway, resulting in tumor formation.

Other Names for This Gene

  • FLJ20507
  • FLJ22257
  • TM127_HUMAN

Frequently Asked Questions

Carrying a TMEM127 gene mutation significantly increases your lifetime risk of developing paraganglioma or pheochromocytoma, though the exact percentage can vary. Due to this increased risk, regular surveillance is recommended. This typically involves annual clinical evaluations, blood and urine tests for hormone levels (catecholamines and metanephrines), and periodic imaging studies like MRI or CT scans to screen for tumors, often starting in early adulthood.
Paragangliomas and pheochromocytomas can cause symptoms related to excess hormone production, such as high blood pressure (which can be sustained or episodic), rapid heart rate, palpitations, severe headaches, excessive sweating, and anxiety or panic attacks. Some tumors may also cause symptoms due to their size or location, like abdominal pain or a palpable mass. If you have a TMEM127 mutation, it's important to report any of these symptoms to your doctor promptly.
The primary treatment for paragangliomas and pheochromocytomas is surgical removal of the tumor. Before surgery, medications are often prescribed to control blood pressure and heart rate to prevent complications. For tumors that cannot be surgically removed or have spread, other treatments like radiation therapy, chemotherapy, or targeted therapies may be considered. Regular follow-up is essential after treatment to monitor for recurrence or new tumor development.
TMEM127 gene mutations are typically inherited in an autosomal dominant pattern, meaning only one copy of the mutated gene is needed to increase the risk of developing tumors. If you have a TMEM127 mutation, there is a 50% chance that each of your children will also inherit the mutation. Genetic counseling and testing for at-risk family members (parents, siblings, children) are strongly recommended to identify those who may benefit from surveillance.
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.

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