PKD1L1

Description

The PKD1L1 gene provides instructions for making a protein called polycystin-1, a large and complex protein that plays a vital role in the development and function of the kidneys. It is located on chromosome 16 and is involved in cell signaling, cell adhesion, and the regulation of fluid balance within the kidneys. Mutations in the PKD1L1 gene can lead to a range of kidney disorders, most notably autosomal dominant polycystic kidney disease (ADPKD), a common genetic disorder characterized by the formation of cysts in the kidneys. Understanding the function of the PKD1L1 gene and its associated mutations is crucial for developing effective treatments and strategies for managing these conditions.

Associated Diseases

• Autosomal dominant polycystic kidney disease (ADPKD)
• Focal segmental glomerulosclerosis (FSGS)
• Nephrotic syndrome
• Tuberous sclerosis complex

Did you know?

The PKD1L1 gene is one of the largest known human genes, spanning over 500,000 base pairs.