Description
Product Characteristics:
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.
Subcellular location: Cytoplasm
Synonyms: ARH, ARH GENE, ARH_HUMAN, ARH1, ARH2, Autosomal recessive hypercholesterolemia protein, FHCB1, FHCB2, LDL receptor adaptor protein, Ldlrap1, Low density lipoprotein receptor adapter protein 1.
Target Information: 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]