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PKHD1

PKHD1

Reviewed June 2006

What is the official name of the PKHD1 gene?

The official name of this gene is “polycystic kidney and hepatic disease 1 (autosomal recessive).”

PKHD1 is the gene's official symbol. The PKHD1 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 PKHD1 gene?

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.

How are changes in the PKHD1 gene related to health conditions?

polycystic kidney disease - caused by mutations in the PKHD1 gene

More than 270 mutations in the PKHD1 gene have been identified in people with polycystic kidney disease. These mutations cause autosomal recessive polycystic kidney disease (ARPKD), which is a severe type of the disorder that is usually evident at birth or in early infancy. PKHD1 mutations include changes in single DNA building blocks (base pairs) and insertions or deletions of a small number of base pairs in the gene. These mutations disrupt the normal structure and function of the fibrocystin protein, or lead to the production of an abnormally small, nonfunctional version of the protein. Researchers have not determined how these genetic changes lead to the formation of numerous cysts characteristic of polycystic kidney disease.

Where is the PKHD1 gene located?

Cytogenetic Location: 6p12.2

Molecular Location on chromosome 6: base pairs 51,615,346 to 52,087,624

The PKHD1 gene is located on the short (p) arm of chromosome 6 at position 12.2.

The PKHD1 gene is located on the short (p) arm of chromosome 6 at position 12.2.

More precisely, the PKHD1 gene is located from base pair 51,615,346 to base pair 52,087,624 on chromosome 6.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about PKHD1?

You and your healthcare professional may find the following resources about PKHD1 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 PKHD1 gene or gene products?

  • FCYT
  • fibrocystin
  • PKHD1_HUMAN
  • polyductin
  • TIGM1
  • tigmin

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 PKHD1?

autosomal ; autosomal recessive ; cell ; cell membrane ; cysts ; DNA ; gene ; hepatic ; kidney ; pancreas ; polycystic kidney ; proliferation ; protein ; receptor ; recessive ; renal ; repulsion

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (10 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.

 
Reviewed: June 2006
Published: July 7, 2014