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CTSD gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

CTSD gene

The CTSD gene provides instructions for producing the enzyme cathepsin D, which is vital for protein modification and cellular recycling within lysosomes.

Normal Function

The CTSD gene provides instructions for making an enzyme called cathepsin D. Cathepsin D is one of a family of cathepsin proteins that act as protease enzymes, which modify proteins by cutting them apart. Cathepsin D is found in many types of cells and is active in lysosomes, which are compartments within cells that digest and recycle different types of molecules. By cutting proteins apart, cathepsin D can break down certain proteins, turn on (activate) other proteins, and regulate self-destruction of the cell (apoptosis).

Cathepsin D is produced as an inactive enzyme, called a preproenzyme, which has extra protein segments attached. These segments must be removed, followed by additional processing steps, for the enzyme to become active. The mature, active cathepsin D enzyme is made up of two parts, one light chain and one heavy chain.

Health Conditions Related to Genetic Changes

CLN10 disease

At least seven mutations in the CTSD gene have been found to cause CLN10 disease. The signs and symptoms of CLN10 disease are usually present at birth and include muscle rigidity, respiratory failure, and severe seizures; death typically occurs in infancy. Rarely, CLN10 disease can develop later in life with poor coordination and balance (ataxia), loss of speech, a gradual loss in intellectual functioning (cognitive decline), and vision loss.

  • CTSD gene mutations found to cause CLN10 disease that is present at birth lead to a complete lack of cathepsin D enzyme activity. As a result, proteins and fats are not broken down properly and abnormally accumulate within lysosomes.
  • Nerve cells appear to be particularly vulnerable to damage caused by the abnormal cell materials. Early and widespread loss of nerve cells in CLN10 disease leads to severe signs and symptoms and death in infancy.
  • In later-onset cases, CTSD gene mutations likely result in the production of a cathepsin D enzyme whose function is greatly reduced but not eliminated.

Genomic Location

The CTSD gene is found on chromosome 11.

Frequently Asked Questions

In many cases, infants with CLN10 disease show muscle stiffness, difficulty breathing, and seizures within the first weeks of life. Parents should watch for persistent muscle tone abnormalities, frequent apnea episodes, or seizures that do not respond to standard anticonvulsants. Early neurologic evaluation and a detailed family history can prompt genetic testing for CTSD mutations. How is a CTSD mutation confirmed and what tests are involved?::Confirmation typically requires a DNA test from a blood or saliva sample. Whole exome sequencing or targeted CTSD gene sequencing will identify pathogenic variants. In some cases, a skin biopsy can be used to measure cathepsin D enzyme activity, confirming a functional deficiency. What treatment options are available for infants diagnosed with CLN10 disease?::Currently, there is no cure. Management focuses on supportive care: seizure control with antiepileptic drugs, respiratory support such as CPAP or mechanical ventilation, and physical therapy to address muscle rigidity. Experimental therapies, including gene therapy trials, are under investigation but are not yet widely available. Can parents with a known CTSD mutation have children who do not develop CLN10 disease?::CTSD mutations are inherited in an autosomal recessive pattern. If both parents carry a pathogenic variant, each pregnancy has a 25% chance of producing an affected child, a 50% chance of a carrier, and a 25% chance of a child with no mutation. Prenatal testing or preimplantation genetic diagnosis can help families assess risk in future pregnancies.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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