Official symbol | LRP5 |
Gene id | 4041 |
Organism | Homo sapiens |
Official full symbol | LDL receptor related protein 5 |
Gene type | protein-coding |
Also known as | BMND1, EVR1, EVR4, HBM, LR3, LRP-5, LRP-7, LRP7, OPPG, OPS, OPTA1, PCLD4, VBCH2 |
Summary | This gene encodes a transmembrane low-density lipoprotein receptor that binds and internalizes ligands in the process of receptor-mediated endocytosis. This protein also acts as a co-receptor with Frizzled protein family members for transducing signals by Wnt proteins and was originally cloned on the basis of its association with type 1 diabetes mellitus in humans. This protein plays a key role in skeletal homeostasis and many bone density related diseases are caused by mutations in this gene. Mutations in this gene also cause familial exudative vitreoretinopathy. Alternative splicing results in multiple transcript variants. |
Genomic regions | Chromosome 11 |
Name | Transcript ID | bp | Protein | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
LRP5-201 | ENST00000294304.12 | 5177 | 1615aa | Protein coding | CCDS8181 | O75197 | NM_002335.4 | TSL:1, GENCODE basic, APPRIS P1, MANE Select v0.92, |
LRP5-205 | ENST00000529702.1 | 586 | 172aa | Protein coding | - | H0YE98 | - | CDS 5' incomplete, TSL:3, |
LRP5-206 | ENST00000529993.5 | 5103 | 471aa | Nonsense mediated decay | - | E9PHY1 | - | TSL:1, |
LRP5-204 | ENST00000529481.1 | 551 | No protein | Processed transcript | - | - | - | TSL:3, |
LRP5-202 | ENST00000528714.1 | 534 | No protein | Processed transcript | - | - | - | TSL:3, |
LRP5-203 | ENST00000528890.1 | 464 | No protein | Retained intron | - | - | - | TSL:3, |
LRP5-207 | ENST00000533695.1 | 267 | No protein | Retained intron | - | - | - | TSL:3, |
Target Gene | LRP5 |
This KO Strategy | loading |
Red Cotton™ Notes | Gene LRP5 had been KO in hek293t cell line. |
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