Normal function · from ai-gene-review (O14791, commit 79fe13b38970) · AI-generated, not KB evidence

Apolipoprotein L1 is a membrane-active component of human serum trypanosome lytic factors. It circulates on lipoprotein particles and acts after uptake by susceptible trypanosomes, disrupting parasite membrane ion homeostasis. Mature human APOL1 forms cation-selective channels after acidic membrane association and subsequent neutralization. Its carboxy-terminal region is recognized by the trypanosome serum resistance-associated protein, which counteracts host killing. Loss of circulating APOL1 can compromise innate protection against normally non-human-infective trypanosomes. APOL1 is expressed in multiple tissues, including pancreas, lung, prostate, liver, placenta and spleen. Its coding risk haplotypes G1 and G2 are associated with increased susceptibility to focal segmental glomerulosclerosis and other forms of nondiabetic kidney disease. The relationship between cell-intrinsic renal injury and its circulating host-defense activity remains an active mechanistic question.

Forms pH-gated membrane cation channels as a direct effector of innate defense against susceptible trypanosomes. Lipid-bilayer association at acidic pH precedes channel opening after neutralization. The membrane location denotes the inserted active pool; circulating HDL-associated APOL1 is a distinct delivery pool, not an assertion of channel activity on HDL.
molecular function: monoatomic cation channel activity · directly involved in: defense response to protozoan; innate immune response · locations: membrane
In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

DisorderRelationshipWhere the gene appears
Focal Segmental Glomerulosclerosis risk factor
mechanism: APOL1 Risk-Variant Cation Flux and Podocyte Cytotoxicity
Glomerulonephritis modifier
Chronic Kidney Disease untyped
Risk Factor
ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen diseaseMOIClassificationdismech entry
focal segmental glomerulosclerosis 4, susceptibility to MONDO:0012931 AR Definitive
2021-09-28
no dismech entry

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.