SLC12A5

Description

The SLC12A5 (solute carrier family 12 member 5) is a protein-coding gene located on chromosome 20.

SLC12A5, also known as KCC2, is a protein found in neurons that is crucial for their function. It moves chloride ions out of neurons, maintaining a low level of chloride inside. This is essential for the proper function of GABA-A receptors, which are involved in inhibiting neuronal activity. When these receptors are activated, they allow chloride to enter the neuron, causing it to become less likely to fire. SLC12A5 is also involved in the development of dendritic spines, the structures that receive signals from other neurons. Animals lacking SLC12A5 have severe motor problems, seizures, and muscle stiffness. They also die shortly after birth due to breathing difficulties. SLC12A5 is found throughout the central nervous system, including the hippocampus, hypothalamus, brainstem, and motor neurons in the spinal cord. It is located in the cell body and dendrites of neurons, but not in the axons. This protein is also found in the same areas as GABA-A receptors.

SLC12A5 is also known as DEE34, EIEE34, EIG14, KCC2, hKCC2.

Associated Diseases

• Malignant migrating focal seizures of infancy
• Epileptic encephalopathy, early infantile, 34
• Epilepsy, idiopathic generalized, susceptibility to, 14