Sodium channel protein type 8 subunit alpha

UniProt Q9UQD0 Organism Homo sapiens Gene MED, SCN8A

Also known as: MED, SCN8A

Function

Pore-forming subunit of a voltage-gated sodium channel complex assuming opened or closed conformations in response to the voltage difference across membranes and through which sodium ions selectively pass along their electrochemical gradient. Contributes to neuronal excitability by regulating action potential threshold and propagation.

Classification

Family (Pfam): PF00520 Ion_trans, PF24609 IQ_SCN5A_C, PF06512 Na_trans_assoc, PF11933 Na_trans_cytopl
InterPro: Ion_trans_dom, IQ_motif_EF-hand-BS, IQ_SCN5A_C, Na_channel_a8su, Na_channel_asu, Na_chnl_inactivation_gate, Na_trans_assoc_dom, Na_trans_cytopl, VGCC_Ca_Na, Volt_channel_dom_sf
Functional cluster: DEAD-Box RNA Helicases & Biogenesis Factors

Experimental structures · PDB · 4

8FHD EM 3.10A
8GZ1 EM 3.40A
8GZ2 EM 3.30A
9DK5 EM 2.90A

A predicted model is available from AlphaFold.

Gene Ontology · 18

Disease associations

cognitive impairment with or without cerebellar ataxia MONDO:0013680
developmental and epileptic encephalopathy, 13 MONDO:0013801
seizures, benign familial infantile, 5 MONDO:0014903
myoclonus, familial, 2 MONDO:0100092

Drugs targeting this protein · 56

Neighborhood · nearest proteins

Nearest neighbours of Sodium channel protein type 8 subunit alpha: 3 by sequence/function similarity (left); 3 co-cited in the literature (right).

Related proteins · sequence + function similarity

Co-cited proteins · studied together in the literature

Sodium channel protein type 8 subunit alpha 4 shared papers
Fibroblast growth factor 13 3 shared papers
Protein unc-13 homolog C 1 shared papers
Sodium channel protein type 8 subunit alpha 2 shared papers
Sodium channel regulatory subunit beta-1 3 shared papers
E3 ubiquitin-protein ligase RING1 1 shared papers
Sodium channel regulatory subunit beta-2 1 shared papers
Neuropilin-2 1 shared papers
Chromodomain Y-like protein 1 shared papers
Beta/delta-theraphotoxin-Pre1a 1 shared papers
Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-3 1 shared papers
Fibroblast growth factor 14 1 shared papers

Literature · 30 cited papers

Pain-causing stinging nettle toxins target TMEM233 to modulate NaV1.7 function. Nat. Commun. · 2023
Structure of human NaV1.6 channel reveals Na+ selectivity and pore blockade by 4,9-anhydro-tetrodotoxin. Nat. Commun. · 2023
Cryo-EM structure of human voltage-gated sodium channel Nav1.6. Proc. Natl. Acad. Sci. U.S.A. · 2023
Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy. Am. J. Hum. Genet. · 2021
Partial loss-of-function of sodium channel SCN8A in familial isolated myoclonus. Hum. Mutat. · 2018
SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures. BMC Med. Genet. · 2017
CDYL suppresses epileptogenesis in mice through repression of axonal Nav1.6 sodium channel expression. Nat. Commun. · 2017
The tarantula toxin beta/delta-TRTX-Pre1a highlights the importance of the S1-S2 voltage-sensor region for sodium channel subtype selectivity. Sci. Rep. · 2017
Diagnostic targeted resequencing in 349 patients with drug-resistant pediatric epilepsies identifies causative mutations in 30 different genes. Hum. Mutat. · 2017
Autosomal dominant SCN8A mutation with an unusually mild phenotype. Eur. J. Paediatr. Neurol. · 2016
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. J. Med. Genet. · 2016
Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy. Ann. Clin. Transl. Neurol. · 2016
… and 18 more in the literature graph

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