PEX2 deficiency (Q97726): Difference between revisions
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Refere-se à deficiência da proteína que se acredita estar envolvida na importação de proteínas da matriz do peroxissomo. Mutações neste gene resultam em uma forma de síndrome de Zellweger e doença infantil de Refsum. | |||
| description / en | description / en | ||
This refers to deficiency in the protein that is thought to be involved in peroxisomal matrix protein import. Mutations in this gene result in one form of Zellweger syndrome and infantile Refsum disease. | |||
Revision as of 13:51, 16 August 2026
This refers to deficiency in the protein that is thought to be involved in peroxisomal matrix protein import. Mutations in this gene result in one form of Zellweger syndrome and infantile Refsum disease.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_899078324 |
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| English | PEX2 deficiency |
This refers to deficiency in the protein that is thought to be involved in peroxisomal matrix protein import. Mutations in this gene result in one form of Zellweger syndrome and infantile Refsum disease. |
