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SLC12A6 gene

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

SLC12A6 gene

The SLC12A6 gene provides instructions for the KCC3 protein, which is critical for the development and maintenance of the nervous system.

Normal Function

The SLC12A6 gene provides instructions for making a protein called KCC3, a K-Cl co-transporter. This protein moves potassium and chlorine ions across the cell membrane in an electroneutral manner, meaning the charges inside and outside the cell remain unchanged.

While the specific function of KCC3 is not fully understood, it is critical for the development and maintenance of nerve tissue and axons, which transmit nerve impulses. KCC3 may regulate the concentration of potassium, chlorine, or water in cells and intercellular spaces, and it may also regulate the activity of other ion-sensitive proteins.

Health Conditions Related to Genetic Changes

Andermann syndrome

Several SLC12A6 gene variants have been identified in people with Andermann syndrome, a condition that damages nerves used for muscle movement and sensation (motor and sensory neuropathy). A specific variant, 2436delG, is common in the French-Canadian population of Quebec. Most variants associated with this syndrome result in a shortened, nonfunctional KCC3 protein, which interferes with the development of the corpus callosum and the maintenance of nerves required for movement and sensation.

Charcot-Marie-Tooth disease

Research has also linked variants of the SLC12A6 gene to Charcot-Marie-Tooth disease, a group of disorders that affect the peripheral nerves.

Other Names for This Gene

  • ACCPN
  • DKFZP434D2135
  • KCC3
  • KCC3A
  • KCC3B
  • potassium chloride cotransporter 3
  • potassium chloride cotransporter KCC3a-S3
  • S12A6_HUMAN
  • solute carrier family 12 (potassium/chloride transporter), member 6
  • solute carrier family 12 (potassium/chloride transporters), member 6
  • solute carrier family 12, member 6

Frequently Asked Questions

The first signs often appear in infancy or early childhood and include delayed motor milestones, such as difficulty sitting, standing, or walking, and abnormal muscle tone (either spastic or flaccid). Sensory symptoms may also emerge, such as reduced sensation to light touch or pain, and some children develop speech delays or mild intellectual disability. Early neurologic examination and nerve conduction studies can help identify these subtle changes before more severe symptoms develop.
definitive diagnosis is made by sequencing the SLC12A6 gene from a blood sample. Targeted next‑generation sequencing panels for hereditary neuropathies or whole‑exome sequencing can detect pathogenic variants, including the common 2436delG deletion seen in French‑Canadian populations. Once a variant is identified, a genetic counselor can explain the result and its implications.
Most carriers of a single pathogenic variant are asymptomatic because the disease follows an autosomal recessive inheritance pattern. However, some carriers may have mild, subclinical nerve dysfunction that can be revealed by sensitive neurophysiologic testing, especially if they are exposed to additional stressors such as infections or metabolic disturbances.
There is no cure that restores the defective KCC3 protein, but management focuses on symptom relief and supportive care. Physical and occupational therapy can improve motor function, while speech therapy helps with language delays. Pain and spasticity may be managed with medications such as baclofen or tizanidine. Regular monitoring of cardiac conduction and vision is also recommended, as some patients develop arrhythmias or optic nerve involvement.
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.