LIM domain binding 3
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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 organisation of the sarcomeres and myofibrils provides the strength and stability that is needed during repeated cycles of muscle contraction and relaxation.
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 organisation of the sarcomeres and myofibrils provides the strength and stability that is needed during repeated cycles of muscle contraction and relaxation.
Conditions referring to this gene or chromosome
Other names
cypher
KIAA0613
LIM domain-binding protein 3
oracle
PDLIM6
Z-band alternatively spliced PDZ motif protein
ZASP
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Leitura adicional e referências
- LIM domain binding 3; MedlinePlus, National Library of Medicine.
- 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.
- Ferrer I, Olive M. Molecular pathology of myofibrillar myopathies. Expert Rev Mol Med. 2008 Sep 3;10:e25. doi: 10.1017/S1462399408000793.
- 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.
- 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.
- 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.
- 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.
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