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PORCN gene

porcupine O-acyltransferase
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Normal Function

The PORCN gene provides instructions for making a protein that belongs to a group of related proteins called the porcupine (Porc) family. Although the precise function of the PORCN protein is unknown, proteins in the Porc family are involved in the process of transferring a molecule called palmitoleic acid to Wnt proteins. Wnt proteins participate in chemical signaling pathways in the body and play critical roles in development before birth. Members of the Porc family are located in the endoplasmic reticulum, which is a structure inside the cell that is involved in protein processing and transport. The transfer of palmitoleic acid to Wnt proteins facilitates the release of these proteins from the cell so they can regulate development of the skin, bones, and other structures. Researchers are working to determine the specific role of the PORCN protein within human cells.

Health Conditions Related to Genetic Changes

Focal dermal hypoplasia

At least 29 mutations in the PORCN gene have been found to cause focal dermal hypoplasia. These mutations may alter the protein's structure, lead to the production of an abnormally short version of the protein, or delete the entire PORCN gene. All of these mutations appear to result in the absence of any functional PORCN protein. Researchers believe Wnt proteins cannot be released from the cell without the PORCN protein. When Wnt proteins are unable to leave the cell, they cannot participate in the chemical signaling pathways that are critical for normal development.

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Coloboma

MedlinePlus Genetics provides information about Coloboma

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Other Names for This Gene

  • DHOF
  • FODH
  • MG61
  • MGC29687
  • por
  • PORC
  • PORCN_HUMAN
  • porcupine
  • porcupine homolog (Drosophila)
  • porcupine isoform A
  • porcupine isoform B
  • porcupine isoform C
  • porcupine isoform D
  • porcupine isoform E
  • PPN

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Research Resources

References

  • Bostwick B, Van den Veyver IB, Sutton VR. Focal Dermal Hypoplasia. 2008 May 15 [updated 2016 Jul 21]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from http://www.ncbi.nlm.nih.gov/books/NBK1543/ Citation on PubMed
  • Clements SE, Mellerio JE, Holden ST, McCauley J, McGrath JA. PORCN gene mutations and the protean nature of focal dermal hypoplasia. Br J Dermatol. 2009 May;160(5):1103-9. doi: 10.1111/j.1365-2133.2009.09048.x. Epub 2009 Mar 9. Citation on PubMed
  • Clements SE, Wessagowit V, Lai-Cheong JE, Arita K, McGrath JA. Focal dermal hypoplasia resulting from a new nonsense mutation, p.E300X, in the PORCN gene. J Dermatol Sci. 2008 Jan;49(1):39-42. Epub 2007 Oct 24. Citation on PubMed
  • Grzeschik KH, Bornholdt D, Oeffner F, König A, del Carmen Boente M, Enders H, Fritz B, Hertl M, Grasshoff U, Höfling K, Oji V, Paradisi M, Schuchardt C, Szalai Z, Tadini G, Traupe H, Happle R. Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia. Nat Genet. 2007 Jul;39(7):833-5. Epub 2007 Jun 3. Citation on PubMed
  • Leoyklang P, Suphapeetiporn K, Wananukul S, Shotelersuk V. Three novel mutations in the PORCN gene underlying focal dermal hypoplasia. Clin Genet. 2008 Apr;73(4):373-9. doi: 10.1111/j.1399-0004.2008.00975.x. Epub 2008 Mar 3. Citation on PubMed
  • Paller AS. Wnt signaling in focal dermal hypoplasia. Nat Genet. 2007 Jul;39(7):820-1. Citation on PubMed
  • Tanaka K, Okabayashi K, Asashima M, Perrimon N, Kadowaki T. The evolutionarily conserved porcupine gene family is involved in the processing of the Wnt family. Eur J Biochem. 2000 Jul;267(13):4300-11. Citation on PubMed
  • Wang X, Reid Sutton V, Omar Peraza-Llanes J, Yu Z, Rosetta R, Kou YC, Eble TN, Patel A, Thaller C, Fang P, Van den Veyver IB. Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia. Nat Genet. 2007 Jul;39(7):836-8. Epub 2007 Jun 3. Citation on PubMed
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