Official symbol | APOE |
Gene id | 348 |
Organism | Homo sapiens |
Official full symbol | apolipoprotein E |
Gene type | protein-coding |
Also known as | AD2, APO-E, ApoE4, LDLCQ5, LPG |
Summary | The protein encoded by this gene is a major apoprotein of the chylomicron. It binds to a specific liver and peripheral cell receptor, and is essential for the normal catabolism of triglyceride-rich lipoprotein constituents. This gene maps to chromosome 19 in a cluster with the related apolipoprotein C1 and C2 genes. Mutations in this gene result in familial dysbetalipoproteinemia, or type III hyperlipoproteinemia (HLP III), in which increased plasma cholesterol and triglycerides are the consequence of impaired clearance of chylomicron and VLDL remnants. |
Genomic regions | Chromosome 19 |
Name | Transcript ID | bp | Protein | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
APOE-201 | ENST00000252486.9 | 1166 | 317aa | Protein coding | CCDS12647 | A0A0S2Z3D5 P02649 | NM_000041.4 | TSL:1, GENCODE basic, APPRIS P1, MANE Select v0.92, |
APOE-202 | ENST00000425718.1 | 923 | 219aa | Protein coding | - | E7ERP7 | - | CDS 3' incomplete, TSL:1, |
APOE-203 | ENST00000434152.5 | 864 | 269aa | Protein coding | - | H0Y7L5 | - | CDS 3' incomplete, TSL:2, |
APOE-204 | ENST00000446996.5 | 737 | 216aa | Protein coding | - | E9PEV4 | - | CDS 3' incomplete, TSL:2, |
APOE-205 | ENST00000485628.2 | 771 | No protein | Retained intron | - | - | - | TSL:1, |
Target Gene | APOE |
This KO Strategy | loading |
Red Cotton™ Notes | Gene APOE had been KO in hek293t cell line. |
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