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