ELAV-like protein 3 (ELAVL3)

ELAV-like protein 3 (ELAVL3) is a neuron-specific RNA-binding protein belonging to the ELAVL (embryonic lethal, abnormal vision, Drosophila-like) family, characterized by three RNA recognition motifs enabling it to bind AU-rich elements in the 3' untranslated regions of target mRNAs.[5][4][3] Its primary roles include stabilizing mRNAs, regulating alternative splicing, and promoting neuronal differentiation and maintenance, particularly in central and peripheral neurons.[5][3] ELAVL3 has a crucial function in the maintenance of neuronal axons and synaptic structures, especially in cerebellar Purkinje cells and hippocampal granule cells, where its absence leads to progressive axonal degeneration and motor deficits, as demonstrated in knockout mouse models.[2][3] ELAVL3 is also recognized as an autoantigen (Hu-antigen C) in paraneoplastic neurological syndromes, such as paraneoplastic limbic encephalitis and cerebellar degeneration, wherein patients produce anti-Hu antibodies targeting this protein.[5][3][6] Additionally, reduced expression or abnormal localization of ELAVL3 is implicated in neurodegenerative diseases such as ALS and has been investigated as a possible biomarker and candidate gene in disorders such as autism spectrum disorder.[3][5] No direct therapeutic drugs target ELAVL3, and its role is mostly in disease association as a neuronal and autoimmune (paraneoplastic) marker.

Other names

ELAV like RNA binding protein 3Hu-antigen CHuCPLE21DKFZp547J036HUCLMGC20653Paraneoplastic cerebellar degeneration-associated antigenParaneoplastic limbic encephalitis antigen 21ELAV-like neuron-specific RNA binding protein 3