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LDB3 gene
URL of this page: https://medlineplus.gov/genetics/gene/ldb3/

LDB3 gene

LIM domain binding 3

Normal Function

The LDB3 gene provides instructions for making a protein that is found in heart (cardiac) muscle and in the muscles used for movement (skeletal muscle). Within muscle fibers, structures called sarcomeres generate the force needed for muscles to contract. Sarcomeres are linked together by structures called Z-discs to form myofibrils, which are the basic units of muscle fibers. The LDB3 protein helps to stabilize the sarcomeres by interacting with Z-discs. This organization of the sarcomeres and myofibrils provides the strength and stability that is needed during repeated cycles of muscle contraction and relaxation. 

Health Conditions Related to Genetic Changes

Myofibrillar myopathy

Variants (also called mutations) in the LDB3 gene have been found to cause myofibrillar myopathy. This condition is characterized by muscle weakness (myopathy) that worsens over time. Many of the LDB3 variants that cause myofibrillar myopathy lead to the substitution of one protein building block (amino acid) for another in the LDB3 protein. The altered protein cannot properly interact with Z-discs, which impairs the organization and assembly of myofibrils. Myofibrils that are not organized correctly break down and form clumps (aggregates) of abnormal proteins within the sarcomere, which leads to the myopathy seen in people with myofibrillar myopathy.

More About This Health Condition

Familial dilated cardiomyopathy

MedlinePlus Genetics provides information about Familial dilated cardiomyopathy

More About This Health Condition

Familial hypertrophic cardiomyopathy

MedlinePlus Genetics provides information about Familial hypertrophic cardiomyopathy

More About This Health Condition

Left ventricular noncompaction

MedlinePlus Genetics provides information about Left ventricular noncompaction

More About This Health Condition

Other Names for This Gene

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

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

  • Du H, Chen Y, Zeng L, Wu R, Wu T, Zhu J. Myofibrillar myopathies due to a novel mutation in exon 8 of the LDB3 gene. Int J Rheum Dis. 2024 Feb;27(2):e15036. doi: 10.1111/1756-185X.15036. Citation on PubMed
  • Ferrer I, Olive M. Molecular pathology of myofibrillar myopathies. Expert Rev Mol Med. 2008 Sep 3;10:e25. doi: 10.1017/S1462399408000793. Citation on PubMed
  • Fichna JP, Maruszak A, Zekanowski C. Myofibrillar myopathy in the genomic context. J Appl Genet. 2018 Nov;59(4):431-439. doi: 10.1007/s13353-018-0463-4. Epub 2018 Sep 10. Citation on PubMed
  • Lin C, Guo X, Lange S, Liu J, Ouyang K, Yin X, Jiang L, Cai Y, Mu Y, Sheikh F, Ye S, Chen J, Ke Y, Cheng H. Cypher/ZASP is a novel A-kinase anchoring protein. J Biol Chem. 2013 Oct 11;288(41):29403-13. doi: 10.1074/jbc.M113.470708. Epub 2013 Aug 31. Citation on PubMed
  • Schroder R, Schoser B. Myofibrillar myopathies: a clinical and myopathological guide. Brain Pathol. 2009 Jul;19(3):483-92. doi: 10.1111/j.1750-3639.2009.00289.x. Citation on PubMed
  • Selcen D, Engel AG. Mutations in ZASP define a novel form of muscular dystrophy in humans. Ann Neurol. 2005 Feb;57(2):269-76. doi: 10.1002/ana.20376. Citation on PubMed

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