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Genetics Home Reference: your guide to understanding genetic conditions
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PORCN

Reviewed May 2009

What is the official name of the PORCN gene?

The official name of this gene is “porcupine homolog (Drosophila).”

PORCN is the gene's official symbol. The PORCN gene is also known by other names, listed below.

What is the normal function of the PORCN gene?

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.

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

focal dermal hypoplasia - caused by mutations in the PORCN gene

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.

Where is the PORCN gene located?

Cytogenetic Location: Xp11.23

Molecular Location on the X chromosome: base pairs 48,508,958 to 48,520,813

The PORCN gene is located on the short (p) arm of the X chromosome at position 11.23.

The PORCN gene is located on the short (p) arm of the X chromosome at position 11.23.

More precisely, the PORCN gene is located from base pair 48,508,958 to base pair 48,520,813 on the X chromosome.

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 PORCN?

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

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

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 PORCN?

cell ; endoplasmic reticulum ; gene ; hypoplasia ; molecule ; protein

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/19292719?dopt=Abstract)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/17951029?dopt=Abstract)
  • Gene Review: Focal Dermal Hypoplasia (http://www.ncbi.nlm.nih.gov/books/NBK1543/)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/17546031?dopt=Abstract)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/18325042?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/64840)
  • OMIM: PORCUPINE, DROSOPHILA, HOMOLOG OF (http://omim.org/entry/300651)
  • Paller AS. Wnt signaling in focal dermal hypoplasia. Nat Genet. 2007 Jul;39(7):820-1. (http://www.ncbi.nlm.nih.gov/pubmed/17597772?dopt=Abstract)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/10866835?dopt=Abstract)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/17546030?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 healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: May 2009
Published: July 21, 2014