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