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PEX10 is a protein involved in import of peroxisomal matrix proteins. This protein localizes to the peroxisomal membrane. Mutations in this gene result in phenotypes within the Zellweger spectrum of peroxisomal biogenesis disorders, ranging from neonatal adrenoleukodystrophy to Zellweger syndrome. Alternative splicing results in two transcript variants encoding different isoforms.
Gene Name: | peroxisomal biogenesis factor 10 |
Synonyms: | PEX10, NALD, PBD6A, PBD6B, Peroxin 10, Peroxisome assembly protein 10, Peroxin-10, RING finger protein 69, RNF69 |
Target Sequences: | NM_002617 NP_002608.1 O60683 |
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