Recombinant protein encompassing a sequence within the center region of human ARH. The exact sequence is proprietary.
Alternative Names:
ARH, ARH1, ARH2, FHCB1, FHCB2, FHCL4
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.
