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SLC35A2 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

SLC35A2 gene

The SLC35A2 gene is responsible for producing an enzyme critical to glycosylation, a process that modifies proteins and fats to ensure they function correctly within the body.

Normal Function

The SLC35A2 gene provides instructions for making an enzyme called UDP-galactose translocator (UGT). This enzyme is involved in a process called glycosylation, where complex chains of sugar molecules (oligosaccharides) are added to proteins and fats (lipids). This modification allows these molecules to fully perform their functions. The UGT enzyme transfers a simple sugar called galactose to growing oligosaccharides during this process.

Two versions of the enzyme, UGT1 and UGT2, are produced from the SLC35A2 gene. These versions differ slightly in their amino acid building blocks and can function together or separately in different areas of the cell.

Health Conditions Related to Genetic Changes

SLC35A2-congenital disorder of glycosylation

At least nine mutations in the SLC35A2 gene have been found to cause SLC35A2-congenital disorder of glycosylation (SLC35A2-CDG). This inherited condition causes neurological problems and other systemic abnormalities, including:

  • Seizures
  • Developmental delay
  • Intellectual disability

Mutations in the SLC35A2 gene disrupt the production or activity of the UGT enzyme. Without a properly functioning enzyme, glycosylation cannot proceed normally, resulting in incomplete oligosaccharides. This impairment affects proteins and fats necessary for the normal function of various organs and tissues. In some individuals, glycosylation becomes normal later in childhood, though this does not appear to improve the signs and symptoms of the condition.

Frequently Asked Questions

No, the neurological symptoms such as seizures, intellectual disability, and developmental delay generally do not improve, even in cases where glycosylation levels normalize later in childhood. While the biochemical defect may resolve spontaneously in some individuals, the structural and functional damage to the brain that occurred during early development is permanent. Therefore, long-term management focuses on supportive care, such as anti-seizure medications and physical or occupational therapy, rather than expecting a cure for the cognitive deficits.
There is currently no specific cure for SLC35A2-CDG, so treatment is supportive and symptom-based. Management primarily involves anticonvulsant medications to control seizures and multidisciplinary therapies to address developmental delays. This includes physical therapy to improve motor skills, occupational therapy for daily living activities, and speech therapy if communication is affected. Regular monitoring by neurologists and developmental pediatricians is essential to adjust care plans as the child grows.
Diagnosis typically begins with a screening test called a transferrin isoelectric focusing (TIEF) analysis, which detects abnormal glycosylation patterns in blood proteins. If this screen is positive, confirmatory genetic testing is performed to identify specific mutations in the SLC35A2 gene. Clinicians may also order additional metabolic tests to rule out other causes of neurological impairment, as the symptoms of SLC35A2-CDG can overlap with other congenital disorders of glycosylation.
SLC35A2-CDG is inherited in an autosomal recessive pattern, meaning a child must inherit two mutated copies of the gene, one from each parent, to develop the condition. Parents are typically carriers who do not show symptoms. If a couple has one affected child, there is a 25 percent chance with each subsequent pregnancy that the child will be affected, a 50 percent chance the child will be a carrier, and a 25 percent chance the child will not carry the mutation. Genetic counseling is recommended for families to discuss testing options and reproductive planning.
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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