APOL1 Chromosome 22
Apolipoprotein L1
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What This Gene Does
This gene encodes a secreted high density lipoprotein which binds to apolipoprotein A-I. Apolipoprotein A-I is a relatively abundant plasma protein and is the major apoprotein of HDL. It is involved in the formation of most cholesteryl esters in plasma and also promotes efflux of cholesterol from cells. This apolipoprotein L family member may play a role in lipid exchange and transport throughout the body, as well as in reverse cholesterol transport from peripheral cells to the liver. Several different transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]
Gene Info
Gene Group
Apolipoproteins
Locus Type
gene with protein product
Location
22q12.3
Ensembl
ENSG00000100342
Associated Conditions (12)
Corticosteroids response
Hyalinosis
Segmental Glomerular
Glomerulonephritis
Nephrotic range proteinuria
Proteinuria
Focal segmental glomerulosclerosis
Steroid-resistant nephrotic syndrome
Sickled erythrocytes
APOL1-associated kidney disease
Focal segmental glomerulosclerosis 4
susceptibility to
Key Variants
RS2016225115
drug response
Corticosteroids response, Corticosteroids response
Drug Response
RS1449418628
Conflicting classifications of pathogenicity
Health Risk
RS147973675
Conflicting classifications of pathogenicity
Health Risk
RS759590339
Conflicting classifications of pathogenicity
Health Risk
RS772138899
Conflicting classifications of pathogenicity
Health Risk
RS60910145
Conflicting classifications of pathogenicity; risk factor
Hyalinosis, Segmental Glomerular, Glomerulonephritis
Health Risk
RS71785313
Conflicting classifications of pathogenicity; risk factor
Focal segmental glomerulosclerosis 4, susceptibility to, Focal segmental glomerulosclerosis
Health Risk
RS73885319
Conflicting classifications of pathogenicity; risk factor
Hyalinosis, Segmental Glomerular, Sickled erythrocytes
Health Risk
RS1428826948
Likely benign; risk factor
Focal segmental glomerulosclerosis 4, susceptibility to, Focal segmental glomerulosclerosis 4
Health Risk
RS1569534160
risk factor
Focal segmental glomerulosclerosis 4, susceptibility to, Focal segmental glomerulosclerosis 4
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2016225115 | Drug Response | drug response | Corticosteroids response, Corticosteroids response |
| RS1449418628 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS147973675 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS759590339 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS772138899 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS60910145 | Health Risk | Conflicting classifications of pathogenicity; risk factor | Hyalinosis, Segmental Glomerular, Glomerulonephritis |
| RS71785313 | Health Risk | Conflicting classifications of pathogenicity; risk factor | Focal segmental glomerulosclerosis 4, susceptibility to, Focal segmental glomerulosclerosis |
| RS73885319 | Health Risk | Conflicting classifications of pathogenicity; risk factor | Hyalinosis, Segmental Glomerular, Sickled erythrocytes |
| RS1428826948 | Health Risk | Likely benign; risk factor | Focal segmental glomerulosclerosis 4, susceptibility to, Focal segmental glomerulosclerosis 4 |
| RS1569534160 | Health Risk | risk factor | Focal segmental glomerulosclerosis 4, susceptibility to, Focal segmental glomerulosclerosis 4 |