Official symbol | LDLR |
Gene id | 3949 |
Organism | Homo sapiens |
Official full symbol | low density lipoprotein receptor |
Gene type | protein-coding |
Also known as | FH, FHC, FHCL1, LDLCQ2 |
Summary | The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. Low density lipoprotein (LDL) is normally bound at the cell membrane and taken into the cell ending up in lysosomes where the protein is degraded and the cholesterol is made available for repression of microsomal enzyme 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase, the rate-limiting step in cholesterol synthesis. At the same time, a reciprocal stimulation of cholesterol ester synthesis takes place. Mutations in this gene cause the autosomal dominant disorder, familial hypercholesterolemia. Alternate splicing results in multiple transcript variants. |
Genomic regions | Chromosome 19 |
Name | Transcript ID | bp | Protein | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
LDLR-208 | ENST00000558518.6 | 5173 | 860aa | Protein coding | CCDS12254 | P01130-1 | NM_000527.5 | TSL:1, GENCODE basic, APPRIS P2, MANE Select v0.92, |
LDLR-207 | ENST00000558013.5 | 3144 | 858aa | Protein coding | CCDS58651 | P01130-5 | - | TSL:1, GENCODE basic, APPRIS ALT2, |
LDLR-203 | ENST00000535915.5 | 2768 | 819aa | Protein coding | CCDS56085 | P01130-4 | - | TSL:2, GENCODE basic, |
LDLR-204 | ENST00000545707.5 | 2429 | 682aa | Protein coding | CCDS56083 | P01130-2 | - | TSL:2, GENCODE basic, |
LDLR-202 | ENST00000455727.6 | 2333 | 692aa | Protein coding | CCDS56084 | P01130-3 | - | TSL:2, GENCODE basic, |
LDLR-201 | ENST00000252444.9 | 5337 | 945aa | Protein coding | - | J3KMZ9 | - | CDS 5' incomplete, TSL:1, |
LDLR-205 | ENST00000557933.5 | 2941 | 948aa | Protein coding | - | H0YMD1 | - | TSL:5, GENCODE basic, APPRIS ALT2, |
LDLR-212 | ENST00000560467.1 | 928 | 309aa | Protein coding | - | H0YM92 | - | CDS 5' and 3' incomplete, TSL:3, |
LDLR-210 | ENST00000559340.1 | 605 | 170aa | Nonsense mediated decay | - | H0YMQ3 | - | CDS 5' incomplete, TSL:5, |
LDLR-214 | ENST00000560628.1 | 535 | No protein | Processed transcript | - | - | - | TSL:3, |
LDLR-206 | ENST00000557958.1 | 1881 | No protein | Retained intron | - | - | - | TSL:2, |
LDLR-213 | ENST00000560502.5 | 509 | No protein | Retained intron | - | - | - | TSL:2, |
LDLR-209 | ENST00000558528.1 | 456 | No protein | Retained intron | - | - | - | TSL:2, |
LDLR-211 | ENST00000560173.1 | 389 | No protein | Retained intron | - | - | - | TSL:3, |
Target Gene | LDLR |
This KO Strategy | loading |
Red Cotton™ Notes | Gene LDLR had been KO in hela cell line. |
$49
Single gRNA plasmid off-shelf
$599
Single gRNA lentivirus
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