PKHD1 : PKHD1 ciliary IPT domain containing fibrocystin/polyductin

Description

The PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin) is a protein-coding gene located on chromosome 6.

The PKHD1 gene provides instructions for making a protein called fibrocystin (sometimes known as polyductin). This protein is present in fetal and adult kidney cells, and is also present at low levels in the liver and pancreas. Fibrocystin spans the cell membrane of kidney cells, so that one end of the protein remains inside the cell and the other end projects from the outer surface of the cell. Based on its structure, fibrocystin may act as a receptor, interacting with molecules outside the cell and receiving signals that help the cell respond to its environment. This protein also may be involved in connecting cells together (adhesion), keeping cells apart (repulsion), and promoting the growth and division of cells (proliferation). Fibrocystin is also found in cell structures called primary cilia. Primary cilia are tiny, fingerlike projections that line the small tubes where urine is formed (renal tubules). Researchers believe that primary cilia play an important role in maintaining the size and structure of these tubules; however, the function of fibrocystin in primary cilia remains unclear.

The PKHD1 gene encodes fibrocystin, a protein that plays a critical role in the development and function of the kidney. Fibrocystin promotes the formation of cilia in renal epithelial cells, which are essential for the formation and maintenance of renal tubules. Fibrocystin also regulates cellular symmetry by controlling centrosome duplication, mitotic spindle assembly, and oriented cell division during tubular elongation. It also contributes to cell-cell and cell-matrix adhesion and cell motility. Additionally, fibrocystin promotes cell-cell contact, leading to either increased epithelial cell proliferation or decreased apoptosis. It has also been implicated in the differentiation of collecting ducts and biliary cells, and it may regulate the proliferation of cholangiocytes and the production of CCN2 in a CXCL8-dependent manner.

PKHD1 is also known as ARPKD, FCYT, FPC, PCYT, PKD4, TIGM1.

Associated Diseases

• Autosomal recessive polycystic kidney disease
• Caroli disease
• Polycystic kidney disease 4 with or without polycystic liver disease
• Polycystic kidney disease