Contents

CHCHD10 Mitochondrial Dysfunction — ALS/FTD Causal Chain

🔬 Protein Info

Gene Symbol	ent-gene-c018422f
S59L	Most common pathogenic variant; forms toxic amyloid fibrils with distinct protofilament conformations[@zhou2024]
R15L, G66V	Disrupt CHCH domain folding and mitochondrial targeting
G58R	Muscle-restricted phenotype; autosomal dominant mitochondrial myopathy
KG Connections	2 knowledge graph edges
Databases	GeneCards UniProt NCBI Gene HPA STRING

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