disease 1,022 words KG: ent-dise-c9582792
Contents

TARDBP Mutations in Amyotrophic Lateral Sclerosis

Disease Info
InheritanceAutosomal dominant
ProteinTAR DNA-binding protein 43 (TDP-43)
FunctionRNA-binding protein involved in RNA splicing, stability, and transport
Molecular weight~414 amino acids
Key domainsN-terminal domain, RNA recognition motif (RRM), C-terminal glycine-rich domain
MajorityLocated in C-terminal glycine-rich region
EffectProtein mislocalization and aggregation
DatabasesOMIMOrphanetClinicalTrialsPubMed

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