CLCN4

CLCN4 is a gene that encodes a member of the voltage-gated, chloride channel family. The encoded protein is a transmembrane protein that maintains chloride ion homeostasis in various cell types, including neurons and transmembrane cells. Mutations in this gene may be associated with certain diseases, including X-linked intellectual disability and neurodevelopmental disorders.

Function

The CLCN4 gene provides instructions for making a protein that is part of a family of proteins known as chloride channels. These channels, which span the cell membrane, transport chloride ions into and out of cells. The CLCN4 protein is found in many types of cells and tissues, including the brain, kidney, and muscle.

Clinical significance

Mutations in the CLCN4 gene have been associated with X-linked intellectual disability, a condition characterized by below-average intelligence and learning difficulties. These mutations can lead to a change in the structure of the CLCN4 protein, which may affect its ability to transport chloride ions. This could disrupt the normal balance of ions in neurons, leading to the neurological symptoms seen in individuals with this condition.

See also

• Chloride channel
• X-linked intellectual disability
• Neurodevelopmental disorder