| YWHAG Gene | |
|---|---|
| **Gene Symbol** | YWHAG |
| **Full Name** | Tyrosine 3-Monooxygenase/tryptophan 5-Monooxygenase Activation Protein Gamma |
| **Chromosomal Location** | 7q11.23 |
| **NCBI Gene ID** | 7532 |
| **Ensembl ID** | ENSG00000100911 |
| **UniProt ID** | P61981 |
| **OMIM** | 605066 |
| Disease | Association Type |
| **Alzheimer's Disease** | Risk Factor |
| **Parkinson's Disease** | Potential Modifier |
| **Amyotrophic Lateral Sclerosis** | Potential Role |
| **Spinocerebellar Ataxia** | Disease Gene |
| Associated Diseases | Als |
| KG Connections | 38 edges |
title: YWHAG Gene
Overview
flowchart TD
YWHAG["YWHAG"] -->|"mediates"| TFEB["TFEB"]
YWHAG["YWHAG"] -->|"activates"| Als["Als"]
YWHAG["YWHAG"] -->|"activates"| RICTOR["RICTOR"]
YWHAG["YWHAG"] -->|"activates"| AKT["AKT"]
YWHAG["YWHAG"] -->|"activates"| ENDOG["ENDOG"]
YWHAG["YWHAG"] -->|"activates"| BIP["BIP"]
YWHAG["YWHAG"] -->|"activates"| TSC2["TSC2"]
YWHAG["YWHAG"] -->|"activates"| EIF2AK3["EIF2AK3"]
YWHAG["YWHAG"] -->|"activates"| GSK3B["GSK3B"]
YWHAG["YWHAG"] -->|"activates"| ERN1["ERN1"]
YWHAG["YWHAG"] -->|"activates"| HSPA5["HSPA5"]
YWHAG["YWHAG"] -->|"activates"| MTORC1["MTORC1"]
YWHAG["YWHAG"] -->|"activates"| IRE1A["IRE1A"]
YWHAG["YWHAG"] -->|"activates"| APOPTOSIS["APOPTOSIS"]
style YWHAG fill:#4fc3f7,stroke:#333,color:#000The YWHAG gene (Tyrosine 3-Monooxygenase/tryptophan 5-Monooxygenase Activation Protein Gamma) encodes the gamma isoform of 14-3-3 proteins, a family of conserved regulatory molecules expressed abundantly in the brain. The 14-3-3 proteins are adaptor proteins that modulate intracellular signaling by binding to phosphorylated serine/threonine residues on target proteins. 114-3-3 gamma protects against neuronal deathOpen reference
Gene Information
Function
YWHAG encodes the 14-3-3 gamma protein, which performs several critical functions in neurons:
-
Scaffold/Adaptor Function: 14-3-3 proteins serve as scaffolds that bring together multiple proteins in signaling complexes
-
Regulation of Protein Kinases: Interacts with and regulates activity of various protein kinases including Raf, Akt, and BCR-ABL
-
Apoptosis Regulation: Binds to and inhibits pro-apoptotic proteins like BAD and BAX
-
Signal Transduction: Modulates neurotransmitter receptor signaling and synaptic plasticity
-
Cytoskeletal Organization: Associates with cytoskeletal proteins affecting neuronal morphology
Disease Associations
Neurodegenerative Diseases
Other Neurological Conditions
-
Epilepsy: 14-3-3 gamma dysregulation affects neuronal excitability
-
Intellectual Disability: YWHAG mutations associated with neurodevelopmental disorders
Expression
YWHAG is expressed throughout the brain with high expression in:
-
Cerebral cortex (especially layer 5 pyramidal neurons)
-
Hippocampus (CA1-CA3 regions)
-
Cerebellum (Purkinje cells)
-
Basal ganglia
Key Publications
-
Yuan et al., YWHAG mutations cause neurodevelopmental disorder (2019)
-
Umahara et al., 14-3-3 protein in Alzheimer’s disease brain (2004)
See Also
External Links
References
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