ARH antibody, ARH1 antibody, ARH2 antibody, FHCB1 antibody, FHCB2 antibody, AA691260 antibody, Arh antibody, Arh1 antibody, RGD1563417 antibody, arh antibody, arh1 antibody, arh2 antibody, fhcb1 antibody, fhcb2 antibody, xptb antibody, LDLRAP1 antibody, ldlrap1 antibody, sb:cb50 antibody, zgc:56121 antibody, zgc:158745 antibody, low density lipoprotein receptor adaptor protein 1 antibody, low density lipoprotein receptor adaptor protein 1 L homeolog antibody, low density lipoprotein receptor adaptor protein 1 S homeolog antibody, low density lipoprotein receptor adaptor protein 1a antibody, low density lipoprotein receptor adaptor protein 1b antibody, LDLRAP1 antibody, Ldlrap1 antibody, ldlrap1 antibody, ldlrap1.L antibody, ldlrap1.S antibody, ldlrap1a antibody, ldlrap1b antibody
背景
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.