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SLC29A3 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

SLC29A3 gene

The SLC29A3 gene encodes the ENT3 protein, which is vital for transporting nucleosides within cells to support DNA repair and energy production.

Normal Function

The SLC29A3 gene provides instructions for making a protein called equilibrative nucleoside transporter 3 (ENT3). This protein transports nucleosides—the building blocks of DNA, RNA, and energy molecules like ATP and GTP—across cell membranes.

ENT3 is located in the membranes of two key cell structures:

  • Lysosomes: ENT3 transports nucleosides generated by the breakdown of DNA and RNA out of lysosomes so they can be reused by the cell.
  • Mitochondria: ENT3 helps transport nucleosides into mitochondria, where they are used for the formation and repair of mitochondrial DNA and RNA, which are essential for cellular energy production.

Health Conditions Related to Genetic Changes

Histiocytosis-lymphadenopathy plus syndrome

Mutations in the SLC29A3 gene cause a spectrum of conditions known as histiocytosis-lymphadenopathy plus syndrome. These mutations reduce or eliminate the activity of the ENT3 protein.

Common features include:

  • Histiocytosis: The overgrowth and abnormal accumulation of immune cells called histiocytes, often in the lymph nodes.
  • Lymphadenopathy: Swelling of the lymph nodes, particularly in the neck.
  • Skin and metabolic issues: Including dark skin patches (hyperpigmented), excessive hair growth (hypertrichosis), diabetes, and hearing loss.

Researchers believe the loss of ENT3 activity leads to a toxic buildup of nucleosides in lysosomes and a shortage of nucleosides in mitochondria, which impairs cellular energy production and damages cell function.

Frequently Asked Questions

Diagnosis often involves a combination of clinical evaluation, imaging studies to assess lymph node involvement, and biopsies of affected tissues (e.g., lymph nodes, skin) to confirm histiocytosis. Genetic testing for SLC29A3 mutations provides a definitive diagnosis. Care typically involves a multidisciplinary team of specialists, including geneticists, endocrinologists (for diabetes), dermatologists (for skin issues), otolaryngologists (for hearing loss), and hematologists/oncologists (for histiocytosis management).
Treatment is symptomatic and supportive, tailored to the specific manifestations in each individual. Histiocytosis may be managed with anti-inflammatory medications or, in some cases, chemotherapy. Diabetes is treated with insulin or other glucose-lowering medications. Hearing loss can be addressed with hearing aids or cochlear implants. Skin issues like hyperpigmentation and hypertrichosis may be managed with topical treatments or laser therapy. Regular monitoring of all affected systems is crucial.
Key symptoms include recurrent or persistent swelling of lymph nodes (lymphadenopathy), especially in the neck, and an overgrowth of immune cells called histiocytes (histiocytosis), which can affect various organs. Other common features are dark skin patches (hyperpigmentation), excessive hair growth (hypertrichosis), diabetes, and hearing loss. You should seek medical evaluation if you or your child experience unexplained, persistent lymph node swelling, skin changes, or any combination of these symptoms, as early diagnosis can help manage the condition.
The long-term outlook for individuals with histiocytosis-lymphadenopathy plus syndrome varies depending on the severity and specific symptoms. With ongoing medical management and supportive care, many individuals can lead fulfilling lives. There are no specific universal lifestyle recommendations beyond general healthy living, but managing diabetes through diet and exercise is essential if present. Regular follow-ups with the multidisciplinary care team are vital to monitor symptoms, prevent complications, and adjust treatments as needed.
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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