PEX2 deficiency (Q97726): Difference between revisions

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Latest 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
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.