YWHAG Gene

gene · SciDEX wiki

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:#000

The 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 death2011 · Neurobiology of Aging · DOI 10.1016/j.neurobiolaging.2010.09.027Open 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

  1. Foote et al., 14-3-3 proteins in neurodegeneration (2020)

  2. Yuan et al., YWHAG mutations cause neurodevelopmental disorder (2019)

  3. Umahara et al., 14-3-3 protein in Alzheimer’s disease brain (2004)

  4. Xiao et al., 14-3-3 gamma and neuronal death (2011)

  5. Watanabe et al., 14-3-3 proteins as CSF biomarkers (2009)

See Also

References

  1. 14-3-3 gamma protects against neuronal death Xiao W, et al 2011 · Neurobiology of Aging · DOI 10.1016/j.neurobiolaging.2010.09.027

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