Gene:
low density lipoprotein receptor adaptor protein 1
Gene ID:
198997
Symbol:
LDLRAP1
Species:
1000
Description:
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.