ELAVL3

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Description

The ELAVL3 (ELAV like RNA binding protein 3) is a protein-coding gene located on chromosome 19.

ELAVL3 is a neural-specific RNA-binding protein encoded by the ELAVL3 gene in humans. It belongs to the ELAVL protein family and contains three RNP-type RNA recognition motifs. ELAVL3 is recognized by the anti-Hu serum antibody found in patients with paraneoplastic encephalomyelitis and sensory neuronopathy (PEM/PSN), suggesting a role in neurogenesis. Two alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene.

ELAVL3 is also known as HUC, HUCL, PLE21.

Associated Diseases

• juvenile myoclonic epilepsy
• benign occipital epilepsy
• childhood absence epilepsy
• autosomal dominant epilepsy with auditory features
• benign adult familial myoclonic epilepsy
• infantile convulsions and choreoathetosis
• Angelman syndrome
• developmental and epileptic encephalopathy, 19
• benign familial infantile epilepsy
• Jeavons syndrome
• Unverricht-Lundborg syndrome
• episodic ataxia type 5
• developmental and epileptic encephalopathy, 9
• generalized epilepsy with febrile seizures plus, type 2
• juvenile absence epilepsy