Aliases for SCN11A Gene
- Sodium Channel, Voltage Gated, Type XI Alpha Subunit 2 3
- Sodium Channel, Voltage-Gated, Type XI, Alpha Polypeptide 2 3
- Sodium Channel, Voltage-Gated, Type XI, Alpha Subunit 2 3
- Voltage-Gated Sodium Channel Subunit Alpha Nav1.9 3 4
- Sodium Channel Protein Type XI Subunit Alpha 3 4
- Peripheral Nerve Sodium Channel 5 3 4
- Sensory Neuron Sodium Channel 2 3 4
- SCN12A 3 4
- PN5 3 4
- Sodium Channel, Voltage-Gated, Type XII, Alpha Polypeptide 3
External Ids for SCN11A Gene
Previous HGNC Symbols for SCN11A Gene
Previous GeneCards Identifiers for SCN11A Gene
Voltage-gated sodium channels are membrane protein complexes that play a fundamental role in the rising phase of the action potential in most excitable cells. Alpha subunits, such as SCN11A, mediate voltage-dependent gating and conductance, while auxiliary beta subunits regulate the kinetic properties of the channel and facilitate membrane localization of the complex. Aberrant expression patterns or mutations of alpha subunits underlie a number of disorders. Each alpha subunit consists of 4 domains connected by 3 intracellular loops; each domain consists of 6 transmembrane segments and intra- and extracellular linkers.[supplied by OMIM, Apr 2004]
GeneCards Summary for SCN11A Gene
SCN11A (Sodium Channel, Voltage Gated, Type XI Alpha Subunit) is a Protein Coding gene. Diseases associated with SCN11A include familial episodic pain syndrome with predominantly lower limb involvement and neuropathy, hereditary sensory and autonomic, type vii. Among its related pathways are Developmental Biology and Activation of cAMP-Dependent PKA. GO annotations related to this gene include ion channel activity and voltage-gated sodium channel activity. An important paralog of this gene is CACNA1D.
UniProtKB/Swiss-Prot for SCN11A Gene
This protein 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 sodium ions may pass in accordance with their electrochemical gradient. It is a tetrodotoxin-resistant sodium channel isoform. Also involved, with the contribution of the receptor tyrosine kinase NTRK2, in rapid BDNF-evoked neuronal depolarization.
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.