LDB3

LDB3‏‎ (LIM Domain Binding 3), also known as ZASP (Z-band alternatively spliced PDZ-motif protein), is a protein that in humans is encoded by the LDB3 gene. It is a member of the PDZ domain family, which are involved in organizing proteins in the cell. The LDB3 protein plays a crucial role in maintaining the structural integrity of muscle cells.

Function

The LDB3 protein is found in the Z-disc of muscle cells, where it is involved in the assembly and stabilization of the sarcomere, the basic unit of muscle contraction. It interacts with other proteins such as alpha-actinin and protein kinase C to regulate muscle cell function and response to stress.

Clinical significance

Mutations in the LDB3 gene have been associated with several types of cardiomyopathy, including dilated cardiomyopathy and left ventricular noncompaction. These are serious conditions that can lead to heart failure and sudden cardiac death. Research is ongoing to understand the role of LDB3 in these diseases and to develop potential treatments.

See also

• PDZ domain
• Z-disc
• Cardiomyopathy

References

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