SCN11A
Domain
The sequence contains 4 internal repeats, each with 5 hydrophobic segments (S1, S2, S3, S5, S6) and one positively charged segment (S4). Segments S4 are probably the voltage-sensors and are characterized by a series of positively charged amino acids at every third position.
Function
Sodium channel mediating 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 (PubMed:10580103, PubMed:12384689, PubMed:24036948, PubMed:24776970, PubMed:25791876, PubMed:26645915). Involved in membrane depolarization during action potential in nociceptors which function as key relay stations for the electrical transmission of pain signals from the periphery to the central nervous system (PubMed:24036948, PubMed:24776970, PubMed:25791876, PubMed:26645915). Also involved in rapid BDNF-evoked neuronal depolarization (PubMed:12384689).
Involvement in disease
Neuropathy, hereditary sensory and autonomic, 7
HSAN7
A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN7 is characterized by congenital inability to experience pain resulting in self-mutilations, slow-healing wounds, and multiple painless fractures. mild muscle weakness, delayed motor development, slightly reduced motor and sensory nerve conduction velocities, hyperhidrosis and gastrointestinal dysfunction.
None
The disease is caused by variants affecting the gene represented in this entry.
Episodic pain syndrome, familial, 3
FEPS3
An autosomal dominant neurologic disorder characterized by paroxysmal pain mainly affecting the distal lower extremities and occasionally the upper body, especially the joints of fingers and arms. The pain is exacerbated with fatigue.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.9/SCN11A subfamily.
Tissue Specificity
Expressed in the dorsal root ganglia and trigeminal ganglia, olfactory bulb, hippocampus, cerebellar cortex, spinal cord, spleen, small intestine and placenta.
Cellular localization
- Cell membrane
- Multi-pass membrane protein
Alternative names
SCN12A, SNS2, SCN11A, Sodium channel protein type 11 subunit alpha, Peripheral nerve sodium channel 5, Sensory neuron sodium channel 2, Sodium channel protein type XI subunit alpha, Voltage-gated sodium channel subunit alpha Nav1.9, hNaN, PN5