Meyahealth
HomeGeneticsGeneTECPR2 gene
Back to Gene
TECPR2 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

TECPR2 gene

The TECPR2 gene provides instructions for making a protein involved in autophagy, a critical cellular process for recycling worn-out or unnecessary cell components.

Normal Function

The TECPR2 gene provides instructions for making a protein that is involved in a cellular process called autophagy. Cells use this process to recycle worn-out or unnecessary cell parts and break down certain proteins when they are no longer needed. During autophagy, materials that are no longer needed are isolated in compartments called autophagosomes. The autophagosomes are then transported to cell structures that break the materials down. The TECPR2 protein is thought to be important for the formation of autophagosomes.

Health Conditions Related to Genetic Changes

Spastic paraplegia type 49

At least five mutations in the TECPR2 gene have been found to cause spastic paraplegia type 49. This condition is characterized by gradually worsening muscle stiffness (spasticity) and paralysis in the lower limbs (paraplegia), intellectual disability, and other neurological problems that lead to trouble regulating involuntary body processes, such as digestion and breathing.

Many of the mutations that cause spastic paraplegia type 49 change single protein building blocks (amino acids) in the TECPR2 protein. Others lead to production of an abnormally short protein that is likely broken down quickly. Alteration or loss of the TECPR2 protein is thought to impair autophagy, making cells less efficient at removing unneeded materials. Researchers suggest that nerve cells (neurons) may be particularly vulnerable to impaired autophagy because it is especially difficult to transport waste materials through their long extensions (axons and dendrites) for breakdown. The waste materials can build up in neurons and damage them, resulting in the neurological problems that occur in this condition.

Other Names for This Gene

  • KIAA0329
  • SPG49
  • tectonin beta-propeller repeat-containing protein 2 isoform 1
  • tectonin beta-propeller repeat-containing protein 2 isoform 2

Frequently Asked Questions

Spastic paraplegia type 49 caused by TECPR2 gene mutations is inherited in an autosomal recessive pattern. This means that an individual must inherit two copies of the mutated TECPR2 gene (one from each parent) to develop the condition. Parents who each carry one copy of the mutated gene are typically unaffected but have a 25% chance with each pregnancy of having a child with the condition, a 50% chance of having a child who is a carrier, and a 25% chance of having a child who inherits two normal copies of the gene. Genetic counseling is highly recommended for families to understand their risks and discuss family planning options, including prenatal testing or preimplantation genetic diagnosis.
The initial symptoms of spastic paraplegia type 49 often involve gradually worsening muscle stiffness (spasticity) and weakness, primarily in the lower limbs, leading to difficulty walking or an abnormal gait. Over time, this can progress to paralysis (paraplegia). Beyond motor symptoms, individuals may also experience intellectual disability and other neurological problems affecting involuntary body processes like digestion or breathing. The progression is typically slow but continuous, with symptoms becoming more pronounced over years.
While there is no cure for spastic paraplegia type 49, management focuses on alleviating symptoms and improving quality of life. Physical therapy is crucial for maintaining mobility, reducing spasticity, and preventing muscle contractures. Occupational therapy can help with daily living activities. Medications may be prescribed to manage spasticity. For cognitive challenges, educational support and specialized therapies can be beneficial. Regular monitoring by a neurologist and a multidisciplinary team is important to address the varied symptoms as they progress.
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.

Meyahealth

Ⓒ 2026. All rights reserved by MEYA

About UsTerms & PolicyFAQ