CLN8
Chr 8ARCLN8 transmembrane ER and ERGIC protein
Also known as: C8orf61, EPMR, TLCD6
CLN8 encodes a transmembrane protein that localizes to the endoplasmic reticulum and functions in lipid synthesis, transport, or sensing, with patients showing altered brain sphingolipid and phospholipid levels. Mutations cause neuronal ceroid lipofuscinosis type 8 (CLN8 disease), including the Northern epilepsy variant, characterized by progressive epilepsy with cognitive disabilities. The condition follows autosomal recessive inheritance.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CLN8 · 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
External Resources
Links to major genomics databases and tools