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PORCN gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

PORCN gene

The PORCN gene provides instructions for a protein that regulates Wnt signaling, a chemical pathway essential for the development of skin, bones, and other structures before birth.

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.

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.

Anophthalmia/Microphthalmia

MedlinePlus Genetics provides information about Anophthalmia/Microphthalmia.

Coloboma

MedlinePlus Genetics provides information about Coloboma.

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

Frequently Asked Questions

PORCN is located on the X chromosome. A carrier mother has a 50 % chance of passing the mutated allele to each child. Sons who inherit the mutation will typically express the disease, while daughters may be carriers and may exhibit milder mosaic manifestations. Prenatal testing or preimplantation genetic diagnosis can identify affected embryos.===
PORCN is required for palmitoylation and secretion of Wnt proteins, which drive embryonic patterning of skin, bone, and limbs. Loss of PORCN function prevents Wnt release, disrupting signaling pathways that normally guide the growth and differentiation of dermal fibroblasts and mesenchymal cells, leading to thinning of the dermis, abnormal bone formation, and limb malformations.
Diagnosis is confirmed by genetic testing—Sanger sequencing or next‑generation sequencing panels that include PORCN. Because the mutation is X‑linked, female carriers may have mosaicism; skin biopsy with histology can support the diagnosis, but molecular testing is definitive.
Management is symptomatic and multidisciplinary. Dermatologic care includes wound care for skin thinning, use of moisturizers, and monitoring for infections. Orthopedic interventions (e.g., bracing, surgery) may correct limb deformities. Eye examinations are essential to detect anophthalmia or coloboma, and ophthalmologic interventions can be planned accordingly.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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