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Gene of the month
Gene of the month: APOL1
  1. Shanel Raghubeer1,
  2. Tahir S Pillay2,3,
  3. Tandi Edith Matsha1
  1. 1 Biomedical Sciences, Cape Peninsula University of Technology—Bellville Campus, Cape Town, Western Cape, South Africa
  2. 2 Department of Chemical Pathology, University of Pretoria Faculty of Health Sciences, Pretoria, Gauteng, South Africa
  3. 3 Division of Chemical Pathology, University of Cape Town, Rondebosch, Western Cape, South Africa
  1. Correspondence to Dr Shanel Raghubeer, Biomedical Sciences, Cape Peninsula University of Technology—Bellville Campus, Cape Town 7535, South Africa; shanelraghubeer{at}gmail.com

Abstract

Apolipoprotein L1 (APOL1) is a protein encoded by the APOL1 gene, found only in humans and several primates. Two variants encoding two different isoforms exist for APOL1, namely G1 and G2. These variants confer increased protection against trypanosome infection, and subsequent African sleeping sickness, and also increase the likelihood of renal disease in individuals of African ancestry. APOL1 mutations are associated with increased risk of chronic kidney disease, inflammation, and exacerbation of systemic lupus erythematosus-associated renal dysfunction. This review serves to outline the structure and function of APOL1, as well as its role in several disease outcomes.

  • inflammation
  • kidney
  • genetics

https://doi.org/10.1136/jclinpath-2020-206517

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    Footnotes

    • Contributors SR, TSP, TEM: substantial contributions to the conception or design of the work; drafting the work or revising it critically for important intellectual content; final approval of the version published; agreement to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Patient consent for publication Not required.

    • Provenance and peer review Not commissioned; internally peer reviewed.