DISEASES

Disease-gene associations mined from literature

Literature associating LDLRAP1 and autosomal recessive hypercholesterolemia

LDLRAP1 [ENSP00000363458]

Low density lipoprotein receptor adapter protein 1; Adapter protein (clathrin-associated sorting protein (CLASP)) required for efficient endocytosis of the LDL receptor (LDLR) in polarized cells such as hepatocytes and lymphocytes, but not in non-polarized cells (fibroblasts). May be required for LDL binding and internalization but not for receptor clustering in coated pits. May facilitate the endocytocis of LDLR and LDLR-LDL complexes from coated pits by stabilizing the interaction between the receptor and the structural components of the pits. May also be involved in the internalization of other LDLR family members. Binds to phosphoinositides, which regulate clathrin bud assembly at the cell surface. Required for trafficking of LRP2 to the endocytic recycling compartment which is necessary for LRP2 proteolysis, releasing a tail fragment which translocates to the nucleus and mediates transcriptional repression (By similarity).

Synonyms:  LDLRAP1,  LDLRAP1p,  hLDLRAP1,  Q5SW96,  Q5SW96p ...

Linkouts:  STRING  Pharos  UniProt  OMIM