PLCE1

PLCE1 (Phospholipase C Epsilon 1) is a protein that in humans is encoded by the PLCE1 gene. This protein is part of the phospholipase family of proteins, which play a critical role in cell membrane signaling.

Function

PLCE1 is a member of the phospholipase family of proteins, which are involved in the production of second messengers resulting in the activation of protein kinase C. This protein has been shown to be a crucial component of the Ras signaling pathway, and it is required for neuronal differentiation. The activity of this protein is stimulated by Ras-GTPase activating protein.

Clinical significance

Mutations in the PLCE1 gene have been associated with nephrotic syndrome type 3, also known as early-onset nephrotic syndrome. This condition is characterized by proteinuria, edema, and hypoalbuminemia. It is a rare genetic disorder that affects the kidneys and can lead to end-stage renal disease.

In addition, studies have suggested that variations in this gene may be associated with an increased risk of developing esophageal cancer, gastric cancer, and colorectal cancer. However, more research is needed to confirm these findings and understand the underlying mechanisms.

See also

• Phospholipase
• Nephrotic syndrome
• Ras (protein)

References

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