LLGL1
Chr 17LLGL scribble cell polarity complex component 1
Also known as: DLG4, HUGL, HUGL-1, HUGL1, LLGL, Lgl1, Mgl1
The protein maintains cell polarity and epithelial integrity as part of the cortical cytoskeleton, regulates mitotic spindle orientation in neuroepithelial cells, and is involved in axonogenesis through regulation of vesicular trafficking. Mutations cause autosomal recessive congenital hydrocephalus with severe developmental delays and brain malformations. This gene is highly intolerant to loss-of-function variants in the general population.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
LLGL1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools