SCN9A : sodium voltage-gated channel alpha subunit 9

Description

The SCN9A (sodium voltage-gated channel alpha subunit 9) is a protein-coding gene located on chromosome 2.

The SCN9A gene instructs the production of a sodium channel protein, a crucial component of cell signaling. It forms a channel that allows sodium ions to move across cell membranes, influencing the generation and transmission of electrical signals. The protein is particularly important in nociceptors, nerve cells responsible for transmitting pain signals. These nociceptors are located throughout the body, detecting sensory information and sending it to the brain via the spinal cord. SCN9A also plays a role in olfactory sensory neurons, which detect smells and relay that information to the brain.

The SCN9A gene product, a sodium channel protein, facilitates the movement of sodium ions across the membranes of excitable cells like neurons. It acts as a gate, opening and closing in response to changes in voltage across the cell membrane, allowing sodium ions to flow according to their electrochemical gradient. This process is crucial for the generation and transmission of electrical signals in nerves. The protein is sensitive to tetrodotoxin, a toxin that blocks sodium channels. SCN9A plays a significant role in pain perception, particularly in inflammatory pain conditions.

SCN9A is also known as ETHA, FEB3B, GEFSP7, HSAN2D, NE-NA, NENA, Nav1.7, PN1, SFNP.

Associated Diseases

• Erythermalgia, primary
• Indifference to pain, congenital, autosomal recessive
• Generalized epilepsy with febrile seizures-plus
• Primary erythromelalgia
• Paroxysmal extreme pain disorder
• Dravet syndrome
• Neuropathy, hereditary sensory and autonomic, type II
• Hereditary sensory and autonomic neuropathy type 2
• Erythromelalgia
• Hereditary sensory and autonomic neuropathy type II
• Congenital insensitivity to pain
• Small fiber neuropathy
• Genetic epilepsy with febrile seizures plus