Entity Details

Primary name LDB3
Entity type gene
Source Source Link

Details

PrimaryID11155
RefseqGeneNG_008876
SymbolLDB3
NameLIM domain binding 3
Chromosome10
Location10q23.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1999-09-03
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsLDB3_HUMAN

GO terms

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GOName
GO:0001725 stress fiber
GO:0003779 actin binding
GO:0005080 protein kinase C binding
GO:0005856 cytoskeleton
GO:0005912 adherens junction
GO:0007507 heart development
GO:0008092 cytoskeletal protein binding
GO:0030018 Z disc
GO:0030036 actin cytoskeleton organization
GO:0031143 pseudopodium
GO:0031941 filamentous actin
GO:0045214 sarcomere organization
GO:0046872 metal ion binding
GO:0048471 perinuclear region of cytoplasm
GO:0051371 muscle alpha-actinin binding
GO:0061061 muscle structure development

Diseases

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Disease IDSourceNameDescription
601493 OMIMCardiomyopathy, dilated 1C, with or without left ventricular non-compaction (CMD1C)A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. Cardiomyopathy dilated type 1C is associated with left ventricular non-compaction in some patients. Left ventricular non-compaction is characterized by numerous prominent trabeculations and deep intertrabecular recesses in hypertrophied and hypokinetic segments of the left ventricle. The disease is caused by variants affecting the gene represented in this entry.
601493 OMIMCardiomyopathy, dilated 1C, with or without left ventricular non-compaction (CMD1C)A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. Cardiomyopathy dilated type 1C is associated with left ventricular non-compaction in some patients. Left ventricular non-compaction is characterized by numerous prominent trabeculations and deep intertrabecular recesses in hypertrophied and hypokinetic segments of the left ventricle. The disease is caused by variants affecting the gene represented in this entry.
609452 OMIMMyopathy, myofibrillar, 4 (MFM4)A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM4 is characterized by distal and proximal muscle weakness with signs of cardiomyopathy and neuropathy. The disease is caused by variants affecting the gene represented in this entry.