Anti-PKHD1 antibody [8G12A1]

Supplementary info

This supplementary information is collated from multiple sources and compiled automatically.

Activity summary

The PKHD1 gene encodes the polycystic kidney and hepatic disease 1 protein also referred to as fibrocystin/polyductin. This protein has a molecular mass of approximately 500 kDa. PKHD1 predominantly expresses in kidney and liver epithelial cells. In these tissues it localizes to the primary cilia and the plasma membrane. The structure of PKHD1 suggests it functions as a receptor or co-receptor involved in signal transduction.

Biological function summary

The PKHD1 protein plays a vital role in maintaining tubular and ductal architecture within the kidney and liver. It likely forms part of a complex allowing proper cellular communication and structural support. PKHD1 interacts with the cellular cytoskeleton suggesting a role in mechanosensation and cell proliferation. These functions contribute to normal tissue development and homeostasis in organs where it is expressed.

Pathways

PKHD1 plays a significant role in the Wnt signaling pathway and ciliary function. These pathways are important for regulating cell division polarity and organization. Within the Wnt signaling pathway PKHD1 interacts with proteins such as β-catenin influencing their stability and translocation. PKHD1's function in cilia suggests a link to cellular processes that depend on precise signal reception and transduction.

Associated diseases and disorders

Mutations in PKHD1 are related to autosomal recessive polycystic kidney disease (ARPKD) and congenital hepatic fibrosis. These conditions involve the disrupted function of the kidneys and liver characterized by cyst formation and fibrosis. PKHD1's interaction with fibrocystin/polyductin is key as defects in this pathway lead to the abnormalities observed in ARPKD. Another protein fibrocystin shares overlapping functions with PKHD1 in these pathological conditions further emphasizing its critical role in maintaining proper kidney and liver function.