FEZ1
Description
The FEZ1 (fasciculation and elongation protein zeta 1) is a protein-coding gene located on chromosome 11.
FEZ1 (Fasciculation and elongation protein zeta-1) is a protein encoded by the FEZ1 gene in humans. It is an ortholog of the C. elegans unc-76 gene, which is essential for proper axonal bundling and elongation within axon bundles. Expression of FEZ1 in C. elegans unc-76 mutants can partially restore locomotion and axonal fasciculation, suggesting a role in axonal outgrowth. The N-terminal half of the protein is highly acidic. Alternative splicing generates different isoforms of FEZ1. FEZ1 is found in neurons and is thought to block HIV infection of these cells. FEZ1 interacts with Protein kinase Mζ, NBR1, and DISC1.
FEZ1 is also known as UNC-76.
Associated Diseases
- Potocki-Lupski syndrome
- intellectual disability, autosomal dominant 50
- behavioral variant of frontotemporal dementia
- N-acetylaspartate deficiency
- schizophrenia
- childhood disintegrative disorder
- growth delay due to insulin-like growth factor type 1 deficiency
