KIF5B Gene

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KIF5B Gene

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KIF5B Gene

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.

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]

Kinesin Family Member 5B

...

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]

Kinesin Family Member 5B

| | | [@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.

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)

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Related Entities

KIF5B

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origin_type	v1_polymorphic_backfill
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📊 Evidence Profile Foundational

Evidence Balance

+0%

Certainty

100%

Debates

0

Incoming

184

Outgoing

195

0 supporting 0 contradicting 0 neutral

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📗 Cite This Artifact

KIF5B Gene

KIF5B Gene

Overview

Introduction

KIF5B Gene

Overview

Introduction

Function

Disease Associations

Expression

Key Publications

Cross-Links

Overview

Background

See Also

External Links

References

Pathway Diagram

💬 Discussion