Fibrocystin is a large, receptor-like
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...
that is thought to be involved in the tubulogenesis and/or maintenance of duct-lumen architecture of
epithelium
Epithelium or epithelial tissue is a thin, continuous, protective layer of cells with little extracellular matrix. An example is the epidermis, the outermost layer of the skin. Epithelial ( mesothelial) tissues line the outer surfaces of man ...
.
FPC associates with the primary cilia of epithelial cells and co-localizes with the Pkd2 gene product polycystin-2 (PC2), suggesting that these two proteins may function in a common molecular pathway.
Pathology
Mutations of its encoding gene (chromosomal locus 6p12.2) can cause
autosomal recessive polycystic kidney disease
Autosomal recessive polycystic kidney disease (ARPKD) is the recessive form of polycystic kidney disease. It is associated with a group of congenital fibrocystic syndromes. Mutations in the '' PKHD1'' (chromosomal locus 6p12.2) cause ARPKD.
Signs ...
. PKHD1 gene codes for fibrocystin. Fibrocystin is found in the epithelial cell of both the renal tubule and the bile ducts. A mutation in PKHD1 (can be autosomal recessive pattern or spontaneous mutations) leading to a deficiency in fibrocystin causes characteristic polycystic dilation of both structures.
References
External links
GeneReviews/NIH/NCBI/UW entry on Polycystic Kidney Disease, Autosomal Recessive*
Single-pass transmembrane proteins
{{gene-6-stub