KIF5B Gene
Overview
flowchart TD
KIF5B["KIF5B"] -->|"regulates"| IGF_1["IGF-1"]
KIF5B["KIF5B"] -->|"activates"| Ischemia["Ischemia"]
KIF5B["KIF5B"] -->|"activates"| Ms["Ms"]
KIF5B["KIF5B"] -->|"activates"| Stroke["Stroke"]
KIF5B["KIF5B"] -->|"interacts with"| Tumor["Tumor"]
KIF5B["KIF5B"] -->|"interacts with"| Melanoma["Melanoma"]
KIF5B["KIF5B"] -->|"activates"| Hypertension["Hypertension"]
KIF5B["KIF5B"] -->|"activates"| Als["Als"]
KIF5B["KIF5B"] -->|"activates"| Neurodegeneration["Neurodegeneration"]
KIF5B["KIF5B"] -->|"activates"| Glaucoma["Glaucoma"]
KIF5B["KIF5B"] -->|"activates"| Amyotrophic_Lateral_Sclerosis["Amyotrophic Lateral Sclerosis"]
KIF5B["KIF5B"] -->|"regulates"| CD38["CD38"]
KIF5B["KIF5B"] -->|"regulates"| MIRO1["MIRO1"]
KIF5B["KIF5B"] -->|"interacts with"| OPTN["OPTN"]
style KIF5B fill:#4fc3f7,stroke:#333,color:#000
Kif5B Gene plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.
Introduction
Kif5B Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes. [@hirokawa1998]
<div class="infobox infobox-gene"> [@kardon2009]
KIF5B [@reckpeterson2019]
...KIF5B Gene
Overview
Mermaid diagram (expand to render)
Kif5B Gene plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.
Introduction
Kif5B Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes. [@hirokawa1998]
<div class="infobox infobox-gene"> [@kardon2009]
KIF5B [@reckpeterson2019]
| | | [@maday2014]
|---|---| [@stamp2018]
|
Symbol | KIF5B | [@ebbing2008]
|
Full Name | Kinesin Family Member 5B | [@goldstein2008]
|
Chromosome | 10p11.22 |
|
NCBI Gene ID | [3799](https://www.ncbi.nlm.nih.gov/gene/3799) |
|
OMIM | [604593](https://www.omim.org/entry/604593) |
|
Ensembl ID | [ENSG00000153257](https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000153257) |
|
UniProt ID | [P33175](https://www.uniprot.org/uniprot/P33175) |
|
Encoded Protein | [Kinesin-1 Heavy Chain Protein](/proteins/kif5b-protein) |
|
Associated Diseases | [Parkinson's Disease](/diseases/parkinsons-disease-disease), [Axonal Transport Defects](/mechanisms/axonal-transport-defects), [Mitochondrial Dynamics Disorders](/diseases/mitochondrial-dynamics-disorders) |
</div>
Function
The KIF5B gene encodes Kinesin-1 Heavy Chain Protein, a protein involved in various cellular processes relevant to neuronal function and survival. This gene is implicated in the pathogenesis of several neurodegenerative diseases.
Disease Associations
| Disease | Inheritance | Key Mutations |
|---------|-------------|---------------|
| Parkinson's Disease | Various | Pathogenic variants |
| Axonal Transport Defects | Various | Pathogenic variants |
| Mitochondrial Dynamics Disorders | Various | Pathogenic variants |
Expression
KIF5B is expressed in various brain regions, with notable expression in:
- Cerebral [cortex](/brain-regions/cortex)
- [Hippocampus](/brain-regions/hippocampus)
- Basal ganglia
- [Cerebellum](/brain-regions/cerebellum)
Expression data is available from the [Allen Human Brain Atlas](https://human.brain-map.org/microarray/search/show?search_term=KIF5B).
Key Publications
[NCBI Gene Entry](https://www.ncbi.nlm.nih.gov/gene/3799)
[UniProt Entry](https://www.uniprot.org/uniprot/P33175)Cross-Links
- [Protein: Kinesin-1 Heavy Chain Protein](/proteins/kif5b-protein)
- [Parkinson's Disease](/diseases/parkinsons-disease-disease), [Axonal Transport Defects](/mechanisms/axonal-transport-defects), [Mitochondrial Dynamics Disorders](/diseases/mitochondrial-dynamics-disorders)
Overview
Kif5B Gene plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.
Background
The study of Kif5B Gene has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
See Also
- [Parkinson's Disease](/diseases/parkinsons-disease)
- [Alpha-Synuclein](/mechanisms/alpha-synuclein)
- [/mechanisms/mitochondrial-dysfunction-ad](/mechanisms/mitochondrial-dysfunction-ad)
- [ROS](/entities/ros)
- [/mechanisms/genetics](/mechanisms/genetics)
External Links
- [PubMed](https://pubmed.ncbi.nlm.nih.gov/) - Biomedical literature
- [Alzheimer's Disease Neuroimaging Initiative](https://adni.loni.usc.edu/) - Research data
- [Allen Brain Atlas](https://brain-map.org/) - Brain gene expression data
References
[Vallee RB, et al, Cytoplasmic dynein: a power for neuronal transport (2001)](https://pubmed.ncbi.nlm.nih.gov/11747810/)
[Hirokawa N, Kinesin and dynein superfamily proteins and the mechanism of organelle transport (1998)](https://pubmed.ncbi.nlm.nih.gov/9438838/)
[Kardon JR, Vale RD, Regulators of the cytoplasmic dynein motor (2009)](https://pubmed.ncbi.nlm.nih.gov/19935668/)
[Reck-Peterson SL, et al, The dynein heavy chain: structure, mechanics and regulation (2019)](https://pubmed.ncbi.nlm.nih.gov/27374308/)
[Maday S, et al, Axonal transport: cargo-specific mechanisms of motility and regulation (2014)](https://pubmed.ncbi.nlm.nih.gov/25374355/)
[Stamp T, et al, The role of axonal transport in neurodegenerative diseases (2018)](https://pubmed.ncbi.nlm.nih.gov/29368183/)
[Ebbing B, et al, Dysfunction of axonal transport in hereditary spastic paraplegia (2008)](https://pubmed.ncbi.nlm.nih.gov/18250098/)
[Goldstein AY, et al, Axonal transport and the cytoskeleton (2008)](https://pubmed.ncbi.nlm.nih.gov/18929656/)Pathway Diagram
The following diagram shows the key molecular relationships involving KIF5B Gene discovered through SciDEX knowledge graph analysis:
Mermaid diagram (expand to render)