DISEASES

Disease-gene associations mined from literature

Literature associating SORL1 and atrial heart septal defect 8

SORL1 [ENSP00000260197]

Low-density lipoprotein receptor relative with 11 ligand-binding repeats; Likely to be a multifunctional endocytic receptor, that may be implicated in the uptake of lipoproteins and of proteases. Binds LDL, the major cholesterol-carrying lipoprotein of plasma, and transports it into cells by endocytosis. Binds the receptor- associated protein (RAP). Could play a role in cell-cell interaction. Involved in APP trafficking to and from the Golgi apparatus. It probably acts as a sorting receptor that protects APP from trafficking to late endosome and from processing into amyloid beta, thereby reducing the burden of amyloidogenic peptide formation. Involved in the regulation of smooth muscle cells migration, probably through PLAUR binding and decreased internalization; Belongs to the VPS10-related sortilin family. SORL1 subfamily.

Synonyms:  SORL1,  SORL1p,  hSORL1,  E9PKB0,  E9PP43 ...

Linkouts:  STRING  Pharos  UniProt  OMIM