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LRPAP1

This gene encodes a protein that interacts with the low density lipoprotein (LDL) receptor-related protein and facilitates its proper folding and localization by preventing the binding of ligands. Mutations in this gene have been identified in individuals with myopia 23. Alternative splicing results in multiple transcript variants.
Protein class

Disease related genes, Human disease related genes

Predicted location

Intracellular

Single cell type specificity

Cell type enhanced (Syncytiotrophoblasts, Cytotrophoblasts)

Immune cell specificity

Low immune cell specificity

Cell line specificity

Low cell line specificity

Interaction

Interacts with the LRP1/alpha-2-macroglobulin receptor heavy and light chains; the interaction is transient and coincides with a reduction of ligand binding by the receptor (PubMed:1712782, 1400426, 7774585, 16938309, 16678114, 32296178). Interacts with LRP2/glycoprotein 330 (PubMed:1400426). Interacts with LRP1B; binding is followed by internalization and degradation (PubMed:11384978). Interacts with LDLR (PubMed:16630895). Interacts with SORL1 (PubMed:8940146, 11294867, 12530537, 15053742, 15364913, 26858303). Interacts with LRP1; this interaction is followed by rapid internalization (PubMed:15053742).

Molecular function

Heparin-binding

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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