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Reviewed June 2006
What is the official name of the PKD1 gene?
The official name of this gene is “polycystic kidney disease 1 (autosomal dominant).”
PKD1 is the gene's official symbol. The PKD1 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the PKD1 gene?
The PKD1 gene provides instructions for making a protein called polycystin-1. This protein is most active in kidney cells before birth; much less of the protein is made in normal adult kidneys. Although its exact function is not well understood, polycystin-1 appears to interact with a smaller, somewhat similar protein called polycystin-2.
Polycystin-1 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. This positioning of the protein allows it to interact with other proteins, carbohydrates, and fat molecules (lipids) outside the cell and to receive signals that help the cell respond to its environment. When a molecule binds to polycystin-1 on the surface of the cell, the protein interacts with polycystin-2 to trigger a cascade of chemical reactions inside the cell. These chemical reactions instruct the cell to undergo certain changes, such as maturing to take on specialized functions. Polycystin-1 and polycystin-2 likely work together to help regulate cell growth and division (proliferation), cell movement (migration), and interactions with other cells.
Polycystin-1 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 sense the movement of fluid through these tubules, which appears to help maintain the tubules' size and structure. The interaction of polycystin-1 and polycystin-2 in renal tubules promotes the normal development and function of the kidneys.
Does the PKD1 gene share characteristics with other genes?
The PKD1 gene belongs to a family of genes called TRP (transient receptor potential cation channels).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.
How are changes in the PKD1 gene related to health conditions?
Where is the PKD1 gene located?
Cytogenetic Location: 16p13.3
Molecular Location on chromosome 16: base pairs 2,138,708 to 2,185,898
The PKD1 gene is located on the short (p) arm of chromosome 16 at position 13.3.
More precisely, the PKD1 gene is located from base pair 2,138,708 to base pair 2,185,898 on chromosome 16.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about PKD1?
You and your healthcare professional may find the following resources about PKD1 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the PKD1 gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding PKD1?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (11 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.