靶标:
LDLRAP1
产品别名:
ARH; ARH1; ARH2; FHCB1; FHCB2; FHCL4; LDLRAP1; low density lipoprotein receptor adaptor protein 1; low density lipoprotein receptor adaptor protein 1; low density lipoprotein receptor adapter protein 1; LDL receptor adaptor protein; autosomal recessive hypercholesterolemia protein; 低密度脂蛋白受体衔接蛋白; 低密度脂蛋白受体衔接蛋白1(LDLRAP1);
背景信息:
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.