PORCN
porcupine O-acyltransferase
Normal Function
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.
More About This Health ConditionRelated Conditions
Focal dermal hypoplasiaColoboma
Health Conditions Related to Genetic Changes
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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