LGI1

Chr 10q23.33

leucine rich glioma inactivated 1

Aliases:: IB1099, ETL1, EPITEMPIN
MANE:: ENST00000371418.9

OMIM: 604619 ↗NCBI: 9211 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

LGI1 · O95970

v62025-08-01

Predicted Aligned Error matrix for LGI1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

92.6/ 100

Very high

557 residues

Confidence breakdown

Very high(≥ 90)88%
Confident(70–90)4%
Low(50–70)2%
Very low(< 50)5%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Early onset or syndromic epilepsy
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

autosomal dominant epilepsy with auditory features
0.81
Seizure
0.50
hereditary disease
0.39
epilepsy with auditory features
0.39
developmental and epileptic encephalopathy
0.37
genitopatellar syndrome
0.34
respiratory system disorder
0.28
exostosis
0.26
subarachnoid hemorrhage
0.26
viral encephalitis
0.12

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Leucine-rich glioma-inactivated protein 1

Regulates voltage-gated potassium channels assembled from KCNA1, KCNA4 and KCNAB1. It slows down channel inactivation by precluding channel closure mediated by the KCNAB1 subunit. Ligand for ADAM22 that positively regulates synaptic transmission mediated by AMPA-type glutamate receptors (By similarity). Plays a role in suppressing the production of MMP1/3 through the phosphatidylinositol 3-kinase/ERK pathway (PubMed:15047712)