免 疫 原：KLH conjugated synthetic peptide derived from human ARH/LDL receptor adaptor protein
抗原表位：41-140/308
SWISS：Q5SW96
Gene ID ：26119
Human Gene ID：26119

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.
Function：Adapter protein (clathrin-associated sorting protein (CLASP)) required for efficient endocytosis of the LDL receptor (LDLR) in polarized cells such as hepatocytes and lymphocytes, but not in non-polarized cells (fibroblasts). May be required for LDL b
Subunit：Interacts with LDLR. Binds to soluble clathrin trimers. Interacts with AP2B1; the interaction mediates the association with the AP-2 complex. Interacts with VLDLR
Subcellular Location：Cytoplasm.
Tissue Specificity：Expressed at high levels in the kidney, liver, and placenta, with lower levels detectable in brain, heart, muscle, colon, spleen, intestine, lung, and leukocytes.
Post-translational modifications：Phosphorylated upon DNA damage, probably by ATM or ATR.
DISEASE：Defects in LDLRAP1 are the cause of autosomal recessive hypercholesterolemia (ARH) [MIM:603813]. ARH is a disorder caused by defective internalization of LDL receptors (LDLR) in the liver. ARH has the clinical features of familial hypercholesterolemia
Similarity：Contains 1 PID domain.
Important Note：This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.