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

CYLD gene

The CYLD gene acts as a tumor suppressor by producing an enzyme that regulates cell growth and division, helping to prevent uncontrolled cell proliferation.

Normal Function

The CYLD gene provides instructions for making an enzyme that regulates various signaling pathways involved in cell growth, including NF-KB, Wnt, JNK, TGFB1, and Notch. By managing these pathways, the CYLD enzyme ensures that cells respond appropriately to signals for growth, division (proliferation), or self-destruction (apoptosis). Because it regulates these signals, the enzyme functions as a tumor suppressor, preventing cells from growing or dividing in an uncontrolled manner.

Health Conditions Related to Genetic Changes

CYLD cutaneous syndrome

More than 100 mutations in the CYLD gene are associated with CYLD cutaneous syndrome, a condition characterized by multiple benign skin tumors, such as cylindromas, spiradenomas, and trichoepitheliomas.

  • Individuals are typically born with one mutated copy of the CYLD gene, but the remaining normal copy produces enough enzyme to regulate cell growth.
  • Tumors develop when a second, somatic mutation occurs in a specific cell during a person's lifetime, inactivating the remaining normal copy of the gene.
  • The total loss of functional CYLD enzyme in these cells leads to uncontrolled growth and the formation of skin appendage tumors.

Cancers

Somatic mutations in the CYLD gene have been identified in various cancers, including those of the bone marrow (multiple myeloma), salivary glands, kidneys, liver, colon, and uterus. These mutations reduce CYLD gene activity, impairing its tumor suppressor function and allowing cells to divide uncontrollably and become cancerous.

Other Names for This Gene

  • BRSS
  • CDMT
  • CYLD1
  • CYLD_HUMAN
  • CYLDI
  • EAC
  • HSPC057
  • KIAA0849
  • MFT
  • MFT1
  • SBS
  • TEM
  • USPL2

Frequently Asked Questions

Individuals with CYLD cutaneous syndrome are born with one mutated copy of the CYLD gene. Tumors develop when a second, somatic mutation occurs in the remaining normal copy of the gene within a specific skin cell during a person's lifetime. This "two-hit" process results in the complete loss of functional CYLD enzyme in that cell, leading to uncontrolled growth and tumor formation.
Yes, somatic mutations in the CYLD gene, which reduce its tumor suppressor activity, have been identified in various internal cancers, including those affecting the bone marrow (multiple myeloma), salivary glands, kidneys, liver, colon, and uterus.
CYLD cutaneous syndrome is a genetic condition characterized by the development of multiple benign (noncancerous) skin tumors. The most common types of growths include cylindromas, spiradenomas, and trichoepitheliomas.
CYLD cutaneous syndrome is inherited in an autosomal dominant pattern. This means that inheriting just one mutated copy of the CYLD gene from a parent is sufficient to predispose an individual to the condition, although a second somatic mutation is typically required for tumor development.
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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