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PKHD1 gene
URL of this page: https://medlineplus.gov/genetics/gene/pkhd1/

PKHD1 gene

PKHD1 ciliary IPT domain containing fibrocystin/polyductin

Normal Function

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.

Health Conditions Related to Genetic Changes

Polycystic kidney disease

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.

More About This Health Condition

Other Names for This Gene

  • FCYT
  • fibrocystin
  • PKHD1_HUMAN
  • polycystic kidney and hepatic disease 1 (autosomal recessive)
  • polyductin
  • TIGM1
  • tigmin

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

  • Bergmann C, Senderek J, Kupper F, Schneider F, Dornia C, Windelen E, Eggermann T, Rudnik-Schoneborn S, Kirfel J, Furu L, Onuchic LF, Rossetti S, Harris PC, Somlo S, Guay-Woodford L, Germino GG, Moser M, Buttner R, Zerres K. PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD). Hum Mutat. 2004 May;23(5):453-63. doi: 10.1002/humu.20029. Citation on PubMed
  • Bergmann C, Senderek J, Windelen E, Kupper F, Middeldorf I, Schneider F, Dornia C, Rudnik-Schoneborn S, Konrad M, Schmitt CP, Seeman T, Neuhaus TJ, Vester U, Kirfel J, Buttner R, Zerres K; APN (Arbeitsgemeinschaft fur Padiatrische Nephrologie). Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD). Kidney Int. 2005 Mar;67(3):829-48. doi: 10.1111/j.1523-1755.2005.00148.x. Citation on PubMed
  • Burgmaier K, Gimpel C, Schaefer F, Liebau M. Autosomal Recessive Polycystic Kidney Disease - PKHD1. 2001 Jul 19 [updated 2024 Apr 4]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Available from http://www.ncbi.nlm.nih.gov/books/NBK1326/ Citation on PubMed
  • Harris PC, Rossetti S. Molecular genetics of autosomal recessive polycystic kidney disease. Mol Genet Metab. 2004 Feb;81(2):75-85. doi: 10.1016/j.ymgme.2003.10.010. Citation on PubMed
  • Lina F, Satlinb LM. Polycystic kidney disease: the cilium as a common pathway in cystogenesis. Curr Opin Pediatr. 2004 Apr;16(2):171-6. doi: 10.1097/00008480-200404000-00010. Citation on PubMed
  • 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. doi: 10.1136/jmg.2004.024489. No abstract available. Citation on PubMed or Free article on PubMed Central
  • 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. doi: 10.1038/ng833. Epub 2002 Feb 4. Citation on PubMed
  • 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. doi: 10.1093/hmg/ddg274. Epub 2003 Aug 12. Citation on PubMed
  • Wilson PD. Polycystic kidney disease. N Engl J Med. 2004 Jan 8;350(2):151-64. doi: 10.1056/NEJMra022161. No abstract available. Citation on PubMed

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