Ctf18 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.
<div class="infobox infobox-gene">
| Property | Value | |----------|-------| | Gene Symbol | CTF18 | | Full Name | Chromosome Transmission Fidelity 18 | | Chromosomal Location | 7q22.1 | | NCBI Gene ID | 63922 | | OMIM ID | 607196 | | Ensembl ID | ENSG00000132905 | | UniProt ID | Q8IY92 | | Encoded Protein | Chromosome transmission fidelity factor 18 | | Associated Diseases | Chromosome instability, neurodegeneration |
</div>
Overview
CTF18 is a gene involved in various cellular processes. The encoded protein plays important roles in metabolism, cellular signaling, and disease pathogenesis.
Function
CTF18 encodes a subunit of the Ctf18-RFC complex, which loads proliferating cell nuclear antigen (PCNA) onto DNA for replication and repair.
Key functions include: [@koues2015]
PCNA loading
DNA replication fidelity
Sister chromatid cohesion
DNA damage response
Checkpoint activation
Molecular Mechanism
The Ctf18-RFC complex is a key loader of PCNA (proliferating cell nuclear antigen), the sliding clamp that facilitates DNA replication: [@koues2015]
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CTF18
title: CTF18 Gene
CTF18
Introduction
Ctf18 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.
<div class="infobox infobox-gene">
| Property | Value | |----------|-------| | Gene Symbol | CTF18 | | Full Name | Chromosome Transmission Fidelity 18 | | Chromosomal Location | 7q22.1 | | NCBI Gene ID | 63922 | | OMIM ID | 607196 | | Ensembl ID | ENSG00000132905 | | UniProt ID | Q8IY92 | | Encoded Protein | Chromosome transmission fidelity factor 18 | | Associated Diseases | Chromosome instability, neurodegeneration |
</div>
Overview
CTF18 is a gene involved in various cellular processes. The encoded protein plays important roles in metabolism, cellular signaling, and disease pathogenesis.
Function
CTF18 encodes a subunit of the Ctf18-RFC complex, which loads proliferating cell nuclear antigen (PCNA) onto DNA for replication and repair.
Key functions include: [@koues2015]
PCNA loading
DNA replication fidelity
Sister chromatid cohesion
DNA damage response
Checkpoint activation
Molecular Mechanism
The Ctf18-RFC complex is a key loader of PCNA (proliferating cell nuclear antigen), the sliding clamp that facilitates DNA replication: [@koues2015]
PCNA Loading: Ctf18-RFC opens the PCNA ring and loads it onto DNA at primer-template junctions
Replication Processivity: Loaded PCNA increases DNA polymerase processivity ~100-fold
Coordination: Works with DNA polymerases δ and ε for leading and lagging strand synthesis
Okazaki Fragment Processing: Facilitates strand displacement synthesis for primer removal
Role in DNA Damage Response
Beyond replication, Ctf18-RFC participates in DNA damage response: [@lenhert2018]
Checkpoint Activation: Recruits ATR/ATM kinases to stalled replication forks
Damage Tolerance: Facilitates template switching and translesion synthesis
Sister Chromatid Cohesion: Establishes cohesion between replicated sister chromatids
Repair Recruitment: Localizes repair proteins to damaged DNA
Disease Associations
Chromosome Instability
CTF18 mutations cause chromosome instability syndromes with:
Growth retardation
Microcephaly
Predisposition to cancer
Neurodegeneration
CTF18 deficiency may lead to neurodegeneration through: [@cheng2022]
Genomic Instability: Accumulated DNA damage in neurons
Impaired DNA Repair: Reduced capacity to repair damaged DNA
Accelerated Aging: Premature cellular senescence
Apoptosis Sensitivity: Increased vulnerability to cell death
Alzheimer's Disease
Recent research suggests CTF18 dysfunction may contribute to AD pathogenesis:
Replication Stress: Altered Ctf18-RFC function in AD brain
DNA Damage Accumulation: Increased DNA damage markers in AD neurons
Genomic Instability: Chromosomal abnormalities in AD
Therapeutic Target: Enhancing DNA repair may protect neurons
Parkinson's Disease
DNA repair mechanisms are impaired in PD:
Ctf18-RFC dysfunction may contribute to dopaminergic neuron vulnerability
Environmental toxins cause replication stress
Age-related decline in DNA repair capacity
Therapeutic Implications
Gene Therapy:
Viral delivery of functional CTF18
CRISPR-based gene editing
Pharmacological:
PCNA stabilizers
DNA damage response enhancers
Antioxidants to reduce oxidative DNA damage
Expression
CTF18 is expressed in:
Proliferating cells
Brain (neurons)
High in developing CNS
Background
The study of Ctf18 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.
Brain Atlas Resources
[Allen Human Brain Atlas - CHTF18](https://human.brain-map.org/microarray/search/show?search_term=CHTF18)](/datasets/allen-human-brain-atlas)
[BrainSpan Atlas of the Developing Human Brain](https://brainspan.org/)
Allen Brain Atlas Resources
CTHF18 expression data available from the Allen Brain Atlas:
[Human Brain Atlas - CTHF18 Expression](https://human.brain-map.org/microarray/search/show?search_term=CTHF18): Gene expression data across brain regions
[Allen Cell Type Atlas](https://celltypes.brain-map.org/): Cellular expression patterns in specific neuronal types
[BrainSpan Atlas of the Developing Human Brain](https://brainspan.org/): Developmental expression patterns