PEX13 gene


Gene (OMIM No.)
Function of gene/protein
  • Peroxisomal biogenesis factor 13
  • Involved in peroxisome assembly
Clinical phenotype
(OMIM phenotype no.)
  • Peroxisome biogenesis disorder 12B (PBD12B) (#614885)
  • Autosomal recessive
Ocular features
  • Retinal dystrophy
Visual function
  • Progressive vision loss
Systemic features
  • Neurological impairment
  • Liver dysfunction
  • Skeletal abnormalities
Key investigations
  • Genetic testing: identification of PEX13 mutations
  • Multidisciplinary management including neurology, hepatology, and ophthalmology
Therapies under research
  • None currently specified

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  1. Krause C, Rosewich H, Thanos M, Gärtner J. Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients. Human mutation. 2006 Nov;27(11):1157-.

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Updated on July 8, 2024
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