PEX12

Overview

Gene (OMIM No.)
Function of gene/protein
  • Peroxisomal biogenesis factor 12
  • Involved in peroxisome assembly
Clinical phenotype
(OMIM phenotype no.)
  • Peroxisome biogenesis disorder 3B (PBD3B) (#614882)
Inheritance
  • 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 PEX12 mutations
Management
  • Multidisciplinary management including neurology, hepatology, and ophthalmology
Therapies under research
  • None currently specified

Jump to top


References

  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-.

Jump to top

Updated on July 8, 2024
Was this article helpful?