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CTSF
cathepsin F
The CTSF gene provides instructions for making cathepsin F, a protein involved in the normal function of lysosomes within cells. CTSF encodes cathepsin F, a lysosomal cysteine protease.
CTSF is located on the long (q) arm of chromosome 11, at band 11q13.2. Arm ratio per GRCh38 - banding schematic.
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Clinical tests that include this
Overview
The CTSF gene, or cathepsin F, produces a protein that is part of a family of enzymes known as cathepsins. These enzymes typically function within lysosomes, which are cellular organelles responsible for breaking down and recycling waste materials in the cell.
Normal functioning of cathepsin F is crucial for maintaining cellular health and metabolism. Disruption due to genetic changes in CTSF can impair these essential cellular processes.
What the gene does
The CTSF gene provides the genetic blueprint for cathepsin F, a lysosomal cysteine protease. Proteases are enzymes that break down proteins into smaller peptides or amino acids, a process vital for cellular recycling and waste removal.
Within the lysosome, cathepsin F works to degrade various macromolecules. This degradation is a fundamental process that ensures the cell can remove damaged components and reuse their building blocks. When cathepsin F is not functional, or its activity is reduced, waste products can accumulate in the lysosomes, leading to cellular dysfunction.
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Chromosome location
The CTSF gene is situated on chromosome 11, specifically in the long (q) arm at position 13.2, which is denoted as 11q13.2. This location indicates its precise address within the human genome.
Protein structure
Domain architecture has not been experimentally characterised in detail for this protein.
Key variants
Genetic variations within the CTSF gene can alter the production or function of the cathepsin F protein. These changes, known as variants, can range from single nucleotide differences to larger deletions or insertions within the gene sequence. Depending on their nature and location, variants can have varying impacts on protein function.
Sample of pathogenic variants
10 pathogenic / likely-pathogenic variants from ClinVar, ranked by review status (expert-panel-reviewed first). This is a sample; recurrent founder variants in a specific population may not appear here - see the full ClinVar listing via the link above.
| Variant (HGVS) | Protein change | Classification | Evidence | Associated condition |
|---|---|---|---|---|
c.649C>T | p.Arg217Ter | Pathogenic | ★★☆☆ | Inborn genetic diseases |
c.993_1004delinsTGCCTACT | p.Lys331fs | Pathogenic/Likely pathogenic | ★★☆☆ | Neuronal ceroid lipofuscinosis |
c.1119dup | p.Lys374fs | Pathogenic | ★☆☆☆ | Neuronal ceroid lipofuscinosis |
c.329_347del | p.Val110fs | Pathogenic | ★☆☆☆ | Neuronal ceroid lipofuscinosis 13 |
c.375_382del | p.Pro126fs | Pathogenic | ★☆☆☆ | Neuronal ceroid lipofuscinosis 13 |
c.416C>A | p.Ser139Ter | Pathogenic | ★☆☆☆ | Neuronal ceroid lipofuscinosis 13 |
c.593_594del | p.Thr197_Tyr198insTer | Pathogenic | ★☆☆☆ | Neuronal ceroid lipofuscinosis |
c.664C>T | p.Gln222Ter | Pathogenic | ★☆☆☆ | Neuronal ceroid lipofuscinosis 13 |
c.871_872del | p.Met291fs | Pathogenic | ★☆☆☆ | Neuronal ceroid lipofuscinosis 13 |
c.992del | p.Lys331fs | Pathogenic | ★☆☆☆ | Neuronal ceroid lipofuscinosis 13 |
Evidence stars indicate ClinVar review status. Individual variant interpretation should always be performed by a qualified clinical laboratory - many variants remain classified as Variants of Uncertain Significance (VUS) pending more research.
Associated conditions
Variants in the CTSF gene are associated with a group of inherited metabolic disorders. These conditions typically result from the impaired function of lysosomes, leading to the accumulation of waste materials within cells. This can affect various tissues and organs, causing a range of symptoms.
No disease links recorded for this gene in our reference set.
Inheritance pattern
Conditions caused by pathogenic CTSF variants typically follow autosomal recessive inheritance.
When both parents are carriers, each child has a 25% chance of being affected, 50% of being a carrier, and 25% of being unaffected.
UK clinical status
The CTSF gene is recognised within several NHS Genomic Medicine Service (GMS) pathways in the UK. It is included on gene panels for conditions such as Adult onset neurodegenerative disorder (R58), Early onset or syndromic epilepsy (R59), Likely inborn error of metabolism (R98), Lysosomal storage disorder (R276), and Neuronal ceroid lipofuscinosis (R231). This indicates its established role in the genetic diagnosis of these conditions within the NHS.
Sources: NHS GMS PanelApp · Genomics England PanelApp · NHS National Genomic Test Directory
Frequently asked questions
What does the CTSF gene do?
The CTSF gene provides instructions for making cathepsin F, an enzyme primarily located in lysosomes. This enzyme helps break down and recycle cellular waste products, which is essential for normal cell function.
What happens if there is a variant in the CTSF gene?
Variants in the CTSF gene can lead to reduced or absent cathepsin F protein activity. This can disrupt normal lysosomal function, causing waste materials to accumulate within cells and potentially leading to various health conditions.
How is CTSF inheritance patterned?
CTSF is associated with an autosomal recessive (AR) inheritance pattern. This means an individual must inherit two copies of a pathogenic variant (one from each parent) to develop a related condition.