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ldlrap1

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Official Full Name
low density lipoprotein receptor adaptor protein 1
Background
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. [provided by RefSeq, Jul 2008]
Synonyms
LDLRAP1; low density lipoprotein receptor adaptor protein 1; ARH; ARH1; ARH2; FHCB1; FHCB2; low density lipoprotein receptor adapter protein 1; LDL receptor adaptor protein; autosomal recessive hypercholesterolemia protein; DKFZp586D0624; MGC34705