Contents

TARDBP Mutations in Amyotrophic Lateral Sclerosis

Disease Info

Inheritance	Autosomal dominant
Protein	TAR DNA-binding protein 43 (TDP-43)
Function	RNA-binding protein involved in RNA splicing, stability, and transport
Molecular weight	~414 amino acids
Key domains	N-terminal domain, RNA recognition motif (RRM), C-terminal glycine-rich domain
Majority	Located in C-terminal glycine-rich region
Effect	Protein mislocalization and aggregation
Databases	OMIM Orphanet ClinicalTrials PubMed

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