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]
- Lipid metabolic process
- Endocytosis
- Receptor-mediated endocytosis
- Steroid metabolic process
- Cholesterol metabolic process
- Hypercholesterolemia, familial, 4
- Homozygous familial hypercholesterolemia
- Familial hypercholesterolemia
- Xanthomatosis
- Arcus corneae
Gene Location
