The YWHAE gene (Tyrosine 3-Monooxygenase/tryptophan 5-Monooxygenase Activation Protein Epsilon) encodes the epsilon isoform of 14-3-3 proteins. The 14-3-3 family consists of highly conserved adaptor proteins that regulate diverse cellular processes by binding to phosphorylated serine/threonine motifs on target proteins. YWHAE is widely expressed and plays critical roles in neuronal development and function. [1]
| Attribute | Value | [2]
|-----------|-------| [3]
| Gene Symbol | YWHAE | [4]
| Full Name | Tyrosine 3-Monooxygenase/tryptophan 5-Monooxygenase Activation Protein Epsilon | [5]
| Chromosomal Location | 17p13.3 |
| NCBI Gene ID | 7531 |
| Ensembl ID | ENSG00000100906 |
| UniProt ID | P62258 |
| OMIM | 609066 |
YWHAE encodes the 14-3-3 epsilon protein with essential neuronal functions:
| Disease | Association Type | Mechanism |
|---|---|---|
| Alzheimer's Disease | Modifier/Biomarker | 14-3-3 epsilon interacts with phosphorylated tau; elevated in CSF of AD patients |
| Parkinson's Disease | Potential Role | May interact with alpha-synuclein phosphorylation; CSF 14-3-3 is a biomarker |
| Amyotrophic Lateral Sclerosis | Modifier | Interacts with TDP-43 and FUS; involved in stress granule dynamics |
| Miller-Dieker Syndrome | Contiguous Gene Deletion | YWHAE deletion in 17p13.3 syndrome causes lissencephaly |
YWHAE is expressed ubiquitously with particularly high expression in:
Joo HY, et al. 14-3-3 epsilon: a key regulator of neuronal development. Developmental Neurobiology. 2013. ↩︎
Kim H, et al. 14-3-3 epsilon prevents neuronal apoptosis by inhibiting pro-apoptotic proteins. Cell Death Discovery. 2020. ↩︎
Satoh J, et al. Proteomic analysis of 14-3-3 proteins in Alzheimer's disease brain. Acta Neuropathologica. 2007. ↩︎
Chen XQ, et al. 14-3-3 isoforms in neurodegenerative diseases. Journal of Neural Transmission. 2015. ↩︎
Steinacker P, et al. 14-3-3 proteins in CSF as biomarkers for neurodegenerative diseases. Biomarkers. 2011. ↩︎