KCNQ4

KCNQ4 is a gene that provides instructions for making a protein that is critical for normal hearing. This protein forms a channel that transports positively charged atoms (ions) across cell membranes. The KCNQ4 protein is found in the sensory cells (hair cells) of the inner ear, which are involved in transmitting sound and balance signals to the brain.

Function[edit | edit source]

The KCNQ4 gene belongs to a family of genes that provide instructions for making proteins that form potassium channels. These channels, which transport positively charged atoms (potassium ions) across cell membranes, play a key role in a cell's ability to generate and transmit electrical signals.

The KCNQ4 channel is found in the hair cells of the inner ear. These cells are involved in converting sound waves into nerve impulses, which are transmitted to the brain. The KCNQ4 channel is thought to help regulate the electrical charge of these cells, which is essential for normal hearing.

Clinical significance[edit | edit source]

Mutations in the KCNQ4 gene have been associated with autosomal dominant non-syndromic sensorineural deafness type 2 (DFNA2). This is a form of hearing loss that affects the inner ear or auditory nerve. DFNA2 is characterized by progressive, high-frequency, sensorineural hearing loss.

Genetics[edit | edit source]

The KCNQ4 gene is located on the long (q) arm of chromosome 1 at position 31. More precisely, the KCNQ4 gene is located from base pair 192,283,563 to base pair 192,350,234 on chromosome 1.