ELAVL3
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
