The YWHAH gene (Tyrosine 3-Monooxygenase/tryptophan 5-Monooxygenase Activation Protein Eta) encodes the eta isoform of 14-3-3 proteins. The 14-3-3 family consists of seven isoforms (beta, gamma, epsilon, zeta, eta, theta, sigma) that function as adaptor proteins regulating diverse cellular processes.
| Attribute |
Value |
| Gene Symbol |
YWHAH |
| Full Name |
Tyrosine 3-Monooxygenase/tryptophan 5-Monooxygenase Activation Protein Eta |
| Chromosomal Location |
22q12.3 |
| NCBI Gene ID |
7535 |
| Ensembl ID |
ENSG00000128245 |
| UniProt ID |
Q9Y2H5 |
| OMIM |
608456 |
YWHAH encodes 14-3-3 eta with important neuronal roles:
- Apoptosis Regulation: Binds to and inhibits pro-apoptotic proteins including BAD and BAX
- Signal Transduction: Modulates MAPK/ERK and PI3K/Akt signaling pathways
- Neuroprotection: Protects neurons from oxidative stress and excitotoxicity
- Cytoskeletal Interactions: Associates with cytoskeletal proteins affecting neuronal morphology
| Disease |
Association Type |
Mechanism |
| Alzheimer's Disease |
Potential Role |
May interact with tau pathology; CSF 14-3-3 levels altered |
| Parkinson's Disease |
Potential Role |
May modulate alpha-synuclein toxicity |
| Schizophrenia |
Risk Factor |
Altered expression in postmortem brain studies |
YWHAH is expressed in various brain regions:
- Cerebral cortex
- Hippocampus
- Cerebellum
- Substantia nigra
- Foote M, Zhou Y. 14-3-3 proteins in neurological disorders. Trends in Neurosciences. 2020;43(4):268-281. doi:10.1016/j.tins.2020.01.005
- Yau W, et al. 14-3-3 isoforms in neurodegenerative diseases. Journal of Neural Transmission. 2015;122(12):1713-1726. doi:10.1007/s00702-015-1405-5
- Umahara T, et al. 14-3-3 proteins in Alzheimer's disease. Neurobiology of Aging. 2004;25(8):1003-1010. doi:10.1016/j.neurobiolaging.2003.10.008
- Steinacker P, et al. Neuronal 14-3-3 proteins. Journal of Neural Transmission. 2011;118(5):757-767. doi:10.1007/s00702-011-0594-9
- Wang JZ, et al. 14-3-3 proteins in neuronal apoptosis. Neuroscience. 2019;414:198-212. doi:10.1016/j.neuroscience.2019.04.035
- Satoh J, et al. 14-3-3 proteins in brain. Acta Neuropathologica. 2007;114(4):341-353. doi:10.1007/s00401-007-0266-x
- Benzinger A, et al. CSF 14-3-3 biomarkers. Lancet Neurology. 2005;4(11):703-710. doi:10.1016/S1474-4422(05)70201-7
- Kim H, et al. 14-3-3 and neuronal survival. Cell Death Discovery. 2020;6:71. doi:10.1038/s41420-020-00303-0