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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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Autosomal recessive hypercholesterolemia protein; DKFZp586D0624; LDL receptor adaptor protein; Low density lipoprotein receptor adapter protein 1; MGC34705; RP11-70P17.2
基因别名: ARH; ARH1; ARH2; FHCB1; FHCB2; LDLRAP1
UniProt ID: (Human) Q5SW96
Entrez Gene ID: (Human) 26119