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.
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.
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? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
Where can I find additional information about PKHD1?
You and your healthcare professional may find the following resources about PKHD1 helpful.
- Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK1326/)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for PKHD1 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5314%5Bgeneid%5D)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=((PKHD1%5BTIAB%5D)%20OR%20(polycystic%20kidney%20and%20hepatic%20disease%201%5BTIAB%5D))%20OR%20((ARPKD%5BTIAB%5D)%20OR%20(FCYT%5BTIAB%5D)%20OR%20(fibrocystin%5BTIAB%5D)%20OR%20(polyductin%5BTIAB%5D)%20OR%20(TIGM1%5BTIAB%5D)%20OR%20(tigmin%5BTIAB%5D))%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%201440%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/606702)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_PKHD1.html)
- GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=5314)
- HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=9016)
- Mutation Database, Autosomal Recessive Polycystic Kidney Disease (Aachen University, Germany) (http://www.humgen.rwth-aachen.de/)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/5314)
What other names do people use for the PKHD1 gene or gene products?
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding PKHD1?
autosomal recessive ;
cell membrane ;
polycystic kidney ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Bergmann C, Senderek J, Küpper F, Schneider F, Dornia C, Windelen E, Eggermann T, Rudnik-Schöneborn S, Kirfel J, Furu L, Onuchic LF, Rossetti S, Harris PC, Somlo S, Guay-Woodford L, Germino GG, Moser M, Büttner R, Zerres K. PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD). Hum Mutat. 2004 May;23(5):453-63. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15108277?dopt=Abstract)
- Bergmann C, Senderek J, Windelen E, Küpper F, Middeldorf I, Schneider F, Dornia C, Rudnik-Schöneborn S, Konrad M, Schmitt CP, Seeman T, Neuhaus TJ, Vester U, Kirfel J, Büttner R, Zerres K; APN (Arbeitsgemeinschaft für Pädiatrische Nephrologie). Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD). Kidney Int. 2005 Mar;67(3):829-48. (http://www.ncbi.nlm.nih.gov/pubmed/15698423?dopt=Abstract)
- Gene Review: Polycystic Kidney Disease, Autosomal Recessive (http://www.ncbi.nlm.nih.gov/books/NBK1326/)
- Harris PC, Rossetti S. Molecular genetics of autosomal recessive polycystic kidney disease. Mol Genet Metab. 2004 Feb;81(2):75-85. Review. (http://www.ncbi.nlm.nih.gov/pubmed/14741187?dopt=Abstract)
- Lina F, Satlinb LM. Polycystic kidney disease: the cilium as a common pathway in cystogenesis. Curr Opin Pediatr. 2004 Apr;16(2):171-6. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15021197?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/5314)
- Sharp AM, Messiaen LM, Page G, Antignac C, Gubler MC, Onuchic LF, Somlo S, Germino GG, Guay-Woodford LM. Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts. J Med Genet. 2005 Apr;42(4):336-49. (http://www.ncbi.nlm.nih.gov/pubmed/15805161?dopt=Abstract)
- Ward CJ, Hogan MC, Rossetti S, Walker D, Sneddon T, Wang X, Kubly V, Cunningham JM, Bacallao R, Ishibashi M, Milliner DS, Torres VE, Harris PC. The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein. Nat Genet. 2002 Mar;30(3):259-69. Epub 2002 Feb 4. (http://www.ncbi.nlm.nih.gov/pubmed/11919560?dopt=Abstract)
- Ward CJ, Yuan D, Masyuk TV, Wang X, Punyashthiti R, Whelan S, Bacallao R, Torra R, LaRusso NF, Torres VE, Harris PC. Cellular and subcellular localization of the ARPKD protein; fibrocystin is expressed on primary cilia. Hum Mol Genet. 2003 Oct 15;12(20):2703-10. Epub 2003 Aug 12. (http://www.ncbi.nlm.nih.gov/pubmed/12925574?dopt=Abstract)
- Wilson PD. Polycystic kidney disease. N Engl J Med. 2004 Jan 8;350(2):151-64. Review. (http://www.ncbi.nlm.nih.gov/pubmed/14711914?dopt=Abstract)
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
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.