Presku: | AAP55308 |
Size: | 100 ug |
Weight: | 34kDa |
Gene: | 26119 |
Format: | Lyophilized powder |
Target: | LDLRAP1 is an 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). LDLRAP1 may be required for LDL binding and internalization but not for receptor clustering in coated pits. LDLRAP1 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. LDLRAP1 may also be involved in the internalization of other LDLR family members. LDLRAP1 binds to phosphoinositides, which regulate clathrin bud assembly at the cell surface.The protein encoded by this gene is a cytosolic protein which contains a phosphotyrosine binding (PTD) domain. The PTD domain has been found to interact with the cytoplasmic tail of the LDL receptor. Mutations in this gene lead to LDL receptor malfunction and cause the disorder autosomal recessive hypercholesterolaemia. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Entrez Gene record to access additional publications. |
Alternative names: | ARH; ARH1; ARH2; DKFZp586D0624; FHCB1; FHCB2; MGC34705 |