SLC12A6 (Solute Carrier Family 12 Member 6)

Overview

SLC12A6 encodes a potassium-chloride cotransporter (KCC3), which is essential for regulating ion balance in nerve cells. Mutations in this gene lead to Andermann syndrome (also known as ACCPN), a rare neurological disorder characterized by agenesis of the corpus callosum and peripheral neuropathy.

📍 Chromosomal Position

15q14 (Chromosome 15)

🧬 Gene Category

Hereditary Diseases

🔬 Inheritance

Autosomal recessive

📊 Prevalence

Very rare, more common in French-Canadian populations

Function & Significance

The KCC3 transporter is crucial for maintaining cell volume and ion balance in neurons. It transports potassium and chloride ions out of the cell, which is particularly important for the development and function of the nervous system.

When mutations occur in SLC12A6, this transport is disrupted, leading to swelling of nerve cells and impairment of myelination. This explains both the structural anomalies in the brain (lack of connection between the brain hemispheres) and peripheral neuropathy.

🔬 Corpus Callosum

The corpus callosum is the largest connecting structure between the two hemispheres of the brain. In cases of agenesis (complete absence) or hypoplasia (underdevelopment), various neurological symptoms can occur, ranging from mild to severe.

Associated Diseases

🧠 Andermann Syndrome (ACCPN)

Agenesis of the corpus callosum with peripheral neuropathy, psychomotor retardation
🦵 Progressive Neuropathy

Progressive weakness and loss of sensation in the extremities
🧩 Developmental Delay

Delayed motor and cognitive development during childhood

🧬 Relevant SNPs

rs121908472
15:48933925

Allele 1

Allele 2

Significance: 2436delG – Frameshift mutation that is particularly common in French-Canadian populations. Leads to a premature stop codon and a non-functional protein.

⚕️ Clinical Significance

Andermann syndrome is usually diagnosed in early childhood when developmental delays and neurological symptoms become apparent. MRI imaging shows the characteristic corpus callosum agenesis.

Management: There is no curative therapy. Treatment is symptomatic and includes physical therapy, occupational therapy, and orthopedic aids for neuropathy. Genetic counseling is important for affected families.

📚 Data Sources

The information on this page is based on the following scientific sources:

OMIM: #604878 (SLC12A6), #218000 (ACCPN)
dbSNP: rs121908472
ClinVar: Pathogenic SLC12A6 variants
PubMed: Literature on Andermann syndrome
Orphanet: ORPHA2090 (Andermann syndrome)

Last update: February 2026

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SLC12A6