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LDB3 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

LDB3 gene

The LDB3 gene is responsible for producing a protein that stabilizes muscle fibers, and variants in this gene are linked to conditions such as myofibrillar myopathy.

Normal Function

The LDB3 gene provides instructions for making a protein found in cardiac and skeletal muscles. Within muscle fibers, structures called sarcomeres generate the force required for contraction. These sarcomeres are linked by structures known as Z-discs to form myofibrils, the basic units of muscle fibers. The LDB3 protein helps stabilize sarcomeres by interacting with Z-discs, providing the strength and stability necessary for repeated cycles of muscle contraction and relaxation.

Health Conditions Related to Genetic Changes

Myofibrillar myopathy

Variants in the LDB3 gene have been found to cause myofibrillar myopathy, a condition characterized by progressive muscle weakness. These variants often lead to the substitution of one amino acid for another in the LDB3 protein. The resulting altered protein cannot properly interact with Z-discs, impairing the assembly of myofibrils. This causes the myofibrils to break down and form abnormal protein clumps (aggregates) within the sarcomere.

Nonsyndromic dilated cardiomyopathy

The LDB3 gene is also associated with nonsyndromic dilated cardiomyopathy.

Other Names for This Gene

  • cypher
  • KIAA0613
  • LIM domain-binding protein 3
  • oracle
  • PDLIM6
  • Z-band alternatively spliced PDZ motif protein
  • ZASP

Genomic Location

The LDB3 gene is found on chromosome 10.

Frequently Asked Questions

Patients often notice progressive muscle weakness that starts in the proximal limbs (shoulders, hips) and may be accompanied by muscle cramps, stiffness, and occasional muscle wasting. In some cases, cardiac symptoms such as palpitations or shortness of breath appear early because the same protein is expressed in heart muscle.
Initial evaluation includes a baseline echocardiogram or cardiac MRI to assess ventricular size and function, followed by regular imaging (every 6–12 months) and ECG monitoring for arrhythmias. Biomarkers like NT‑proBNP can help track disease progression, and genetic testing confirms the LDB3 variant.
While no cure exists, supportive measures such as tailored physiotherapy to maintain strength, avoidance of excessive mechanical stress, and, in some cases, low‑dose beta‑blockers or ACE inhibitors for cardiac involvement can improve quality of life. Experimental approaches like molecular chaperone enhancers are under investigation but not yet standard care.
Most LDB3‑associated myopathies and cardiomyopathies are inherited in an autosomal dominant manner, meaning a single altered copy can cause disease. An affected individual has a 50 % chance of passing the variant to each child. Options for family planning include carrier testing of relatives, prenatal diagnostic testing (chorionic villus sampling or amniocentesis), and pre‑implantation genetic testing with IVF to select embryos without the pathogenic variant.
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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