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Gene of the month: APOL1.
Raghubeer, Shanel; Pillay, Tahir S; Matsha, Tandi Edith.
Afiliação
  • Raghubeer S; Biomedical Sciences, Cape Peninsula University of Technology-Bellville Campus, Cape Town, Western Cape, South Africa shanelraghubeer@gmail.com.
  • Pillay TS; Department of Chemical Pathology, University of Pretoria Faculty of Health Sciences, Pretoria, Gauteng, South Africa.
  • Matsha TE; Division of Chemical Pathology, University of Cape Town, Rondebosch, Western Cape, South Africa.
J Clin Pathol ; 73(8): 441-443, 2020 Aug.
Article em En | MEDLINE | ID: mdl-32404472
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.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Apolipoproteína L1 Idioma: En Ano de publicação: 2020 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Apolipoproteína L1 Idioma: En Ano de publicação: 2020 Tipo de documento: Article