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LDLRAP1

Official Full Name
low density lipoprotein receptor adaptor protein 1
Organism
Homo sapiens
GeneID
26119
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
ARH; ARH1; ARH2; FHCB1; FHCB2; FHCL4;

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