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FLASH GENE
Symbol APOL1 contributors: mct - updated : 16-10-2018
HGNC name apolipoprotein L, 1
HGNC id 618
ASSOCIATED DISORDERS
corresponding disease(s) FSGS4
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral     --over  
in papillary thyroid carcinoma compared to normal tissue
Susceptibility
  • to maternal preeclampsia
  • to chronic kidney diseases (CKD)
  • to sickle cell nephropathy (SCN)
  • to systemic lupus erythematosus-associated collapsing glomerulopathy
  • Variant & Polymorphism other
  • APOL1 high-risk status of the fetus is a risk factor for maternal preeclampsia, likely by adversely affecting placental function
  • APOL1 risk variants cause podocytes injury through enhancing endoplasmic reticulum stress, and chronic kidney diseases (CKD)
  • homozygous or double-heterozygous APOL1 G1 and G2 genotypes were strongly associated with end stage renal disease in sickle cell nephropathy
  • APOL1 risk variants associate with systemic lupus erythematosus-associated collapsing glomerulopathy
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS