AlphaFold predicted structure
SCN8A · Q9UQD0
Mean pLDDT
68.4/ 100
Low
1,980 residues
Confidence breakdown
- Very high(≥ 90)15%
- Confident(70–90)46%
- Low(50–70)13%
- Very low(< 50)26%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
SCN8A
Chr 12q13.13sodium voltage-gated channel alpha subunit 8
- Aliases:
- Nav1.6, NaCh6, PN4, CerIII, CIAT
- MANE:
- ENST00000627620.5
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Ataxia and cerebellar anomalies - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedBrain channelopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedChildhood onset dystonia, chorea or related movement disorder
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownEarly onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalHereditary ataxia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownHereditary ataxia with onset in adulthood
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Disease associations (Open Targets)
developmental and epileptic encephalopathy, 13
0.84seizures, benign familial infantile, 5
0.77Seizure
0.74cognitive impairment with or without cerebellar ataxia
0.73epilepsy
0.72early-infantile DEE
0.68undetermined early-onset epileptic encephalopathy
0.67focal epilepsy
0.66complex neurodevelopmental disorder
0.64benign familial infantile epilepsy
0.62
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Sodium channel protein type 8 subunit alpha
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 (PubMed:24874546, PubMed:25239001, PubMed:25725044, PubMed:26900580, PubMed:29726066, PubMed:33245860, PubMed:36696443, PubMed:36823201). Contributes to neuronal excitability by regulating action potential threshold and propagation (PubMed:24874546, PubMed:25239001, PubMed:25725044, PubMed:26900580, PubMed:29726066, PubMed:33245860, PubMed:36696443, PubMed:36823201)
Diseases associated with SCN8A
Curated MONDO disease pages that list SCN8A among their top associated genes.