| GENE NAME | LDLRAP1 |
| CHROMOSOME | 1 |
| ENSEMBL ID | None |
| ENTREZ ID | ENSG00000157978 |
| UNIPROT ACCESSION NUMBER | Q5SW96 |
| GO MOLECULAR FUNCTION | ['amyloid-beta binding', 'low-density lipoprotein particle receptor binding', 'signaling receptor complex adaptor activity', 'phosphotyrosine residue binding', 'AP-1 adaptor complex binding', 'clathrin adaptor activity', 'clathrin binding', 'AP-2 adaptor complex binding', 'protein binding', 'signaling adaptor activity', 'phosphatidylinositol-4,5-bisphosphate binding'] |
| ESSENTIAL IN MOUSE | Non-essential |
| PATHWAYS | hsa04144; hsa04979; R-HSA-174824; R-HSA-199991; R-HSA-382551; R-HSA-5653656; R-HSA-8856825; R-HSA-8856828; R-HSA-8964026; R-HSA-8964038; R-HSA-8964043 |
| 1 combination linked to LDLRAP1 | OLI1304 |
| 1 variant linked to LDLRAP1 | LDLRAP1:c.604_605delTCinsCA, p.Ser202His |
| 1 disease linked to LDLRAP1 | NON RARE IN EUROPE: Heterozygous familial hypercholesterolemia |