Aliases for SCN9A Gene
- Sodium Channel, Voltage Gated, Type IX Alpha Subunit 2 3
- NENA 3 4 6
- PN1 3 4 6
- Sodium Channel, Voltage-Gated, Type IX, Alpha Polypeptide 2 3
- Sodium Channel, Voltage-Gated, Type IX, Alpha Subunit 2 3
- Voltage-Gated Sodium Channel Subunit Alpha Nav1.7 3 4
- Sodium Channel Protein Type IX Subunit Alpha 3 4
- Neuroendocrine Sodium Channel 3 4
- Peripheral Sodium Channel 1 3 4
- GEFSP7 3 6
External Ids for SCN9A Gene
This gene encodes a voltage-gated sodium channel which plays a significant role in nociception signaling. Mutations in this gene have been associated with primary erythermalgia, channelopathy-associated insensitivity to pain, and paroxysmal extreme pain disorder. [provided by RefSeq, Aug 2009]
GeneCards Summary for SCN9A Gene
SCN9A (Sodium Channel, Voltage Gated, Type IX Alpha Subunit) is a Protein Coding gene. Diseases associated with SCN9A include scn9a-related inherited erythromelalgia and febrile seizures, familial, 3b. Among its related pathways are L1CAM interactions and Activation of cAMP-Dependent PKA. GO annotations related to this gene include voltage-gated sodium channel activity and sodium ion binding. An important paralog of this gene is CACNA1D.
UniProtKB/Swiss-Prot for SCN9A Gene
Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient. It is a tetrodotoxin-sensitive Na(+) channel isoform. Plays a role in pain mechanisms, especially in the development of inflammatory pain (By similarity).
Voltage-gated sodium channels (NaV) are responsible for action potential initiation and propagation in excitable cells, including nerve, muscle, and neuroendocrine cell types. They are also expressed at low levels in non-excitable cells, where their physiological role is unclear. Structurally, Nav channels are composed of one pore-forming alpha-subunit, which may be associated with either one or more beta-subunits. alpha-subunits are composed for four homologous domains, each of which contains six transmembrane segments. The fourth transmembrane loop (S4) acts as the voltage sensor and is activated by changes in membrane potential. S4 is also involved in channel gating.